Low-level X chromosome mosaicism in women with sporadic premature ovarian failure
|
|
- Gavin Spencer
- 6 years ago
- Views:
Transcription
1 Reproductive BioMedicine Online (2011) 22, ARTICLE Low-level X chromosome mosaicism in women with sporadic premature ovarian failure K Gersak *, A Veble Department of Obstetrics and Gynecology, Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia * Corresponding author. address: ksenija.gersak@mf.uni-lj.si (K Gersak). Prof Ksenija Gersak, MD, PhD graduated from the Faculty of Medicine, University of Ljubljana. She is a specialist in obstetrics and gynaecology, a chief of Chair of Obstetrics and Gynaecology and lecturer on the postgraduate education programme for biomedicine, University of Ljubljana, and assistant medical director for research at the University Medical Centre, Ljubljana. Her main research interests are reproductive physiology and reproductive genetics. Abstract Low-level X chromosome mosaicism and its clinical relevance are still under debate. It could be interpreted as a technical artefact, genuine mosaicism or as being age-related. This study evaluated the contribution of X chromosome mosaicism in phenotypically normal women with sporadic premature ovarian failure (POF). During , 114 patients with POF and 64 age matched controls were karyotyped. Thirteen patients (11.4%) had true X chromosome mosaicism (>10% of aneuploid cells) and 12 had (10.5%) low-level X-mosaicism (between 6 10% of aneuploid cells). The mean age of women with true and low-level mosaicism was 26.0 ± 5.65 years and ± 3.87 years, respectively (P < 0.001). In the control group the incidence of cells with an abnormal number of X chromosomes was 1 3%. The results have practical implications for genetic counselling and fertility treatment. To search and confirm the low-level mosaicism, a higher number of metaphases should be analysed or additional fluorescence in-situ hybridization analysis must be performed. Although peripheral blood does not reflect the situation in ovarian tissue well, it is presumed that there are different aetiological causes for true and low-level X chromosome mosaicism. The possible causes and reproductive significance of low-level X chromosome mosaicism are discussed. RBMOnline ª 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. KEYWORDS: ageing, premature ovarian failure, X chromosome loss, X chromosome mosaicism Introduction X chromosome mosaicism, balanced translocations involving the X chromosome, Xq deletions and other variants of X chromosome abnormalities are usually associated with abnormal sexual development and reproductive performance, such as primary or secondary amenorrhoea, infertility, recurrent abortions and premature ovarian failure (POF). POF is defined as menopause before age 40 and occurs in 1 2% of women. Causes of POF are of genetic, autoimmune, iatrogenic and environmental origin. Genetic causes of POF probably comprise about one-third to one-half of all cases (Bione and Toniolo, 2000; Goswami and Conway, 2005; Santoro, 2001; Simpson, 2008; van Dooren et al., 2009). The frequency of X chromosome mosaicism in women with the sporadic form of POF has been estimated to be between /$ - see front matter ª 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. doi: /j.rbmo
2 400 K Gersak, A Veble 3% and 11% (Devi and Benn, 1999; Lakhal et al., 2010; Wong and Lam, 2005; Wu et al., 1993). When an abnormal number of sex chromosomes is seen in a low percentage of cells, the result could be interpreted as a technical artefact, genuine mosaicism or being age-related (Russell et al., 2007; Wise et al., 2009). Low-level X chromosome mosaicism and its clinical relevance are still under debate. The aim of the present study was to: (i) evaluate the contribution of X chromosome mosaicism in phenotypically normal women with sporadic idiopathic POF; and (ii) discuss the reproductive significance of low-level X chromosome mosaicism. Materials and methods The study included 114 women with sporadic idiopathic POF out of 197 women with amenorrhoea referred to the Department of Obstetrics and Gynaecology, Division of Medical Genetics, in the period between 1999 and The diagnosis of POF was based on the following criteria: (i) at least 6 months of amenorrhoea; (ii) age at menopause of <40 years; and (iii) two consecutive determinations of serum FSH higher than 40 IU/l. Karyotyping was performed within a 12-month period after the last menses. Women with phenotypic features suggestive of Turner syndrome, primary amenorrhoea or gonadal dysgenesis (65 women) were excluded. Also 18 women with structural abnormalities in one or more chromosomes (balanced translocation with X chromosome involved, X chromosome abnormalities), blood lymphocyte microchimerism, Fragile X premutation, mutations in the FOXL2 or inhibin INH genes were excluded (Gersak et al., 2004, 2010a,b; Harris et al., 2002; Shelling et al., 2000). Sixty-four women with a regular menstrual cycle (28 32 days) with no history of uterine malformations or chronic vascular, renal and autoimmune diseases were included in the control group. Thyroid evaluation (thyroid-stimulating hormone, T3, T4 and/or antithyroid antibodies), adrenal hormones and a comprehensive biochemistry panel (including calcium, phosphorus, electrolytes, cholesterol and fasting glucose) results were normal. All women gave their informed consent. Cytogenetic studies were carried out on peripheral blood samples, cultured for approximately 72 h. For each chromosome analysis, 50 GTG-banded cells were analysed, three of which were karyotyped (Hook, 1977). If the initial cytogenetic analysis revealed any cells with sex chromosome hypo- or hyperploidy, at least 100 cells were counted and analysed. True mosaicism was considered as presence of more than 10% of aneuploid cells whereas low-level mosaicism was defined as 6 10% of aneuploid cells. Confirmation of the mosaicism by fluorescent in-situ hybridization (FISH) on peripheral blood lymphocytes and buccal mucosal cells was not performed in all patients. Results The mean age of the women did not differ between the POF and the control groups (30.20 ± 5.39 years, ± 5.38 years, respectively). X chromosome mosaicism was found in 25 (21.9%) out of 114 women with POF. Thirteen patients (13/114, 11.4%) had true sex chromosome mosaicism (Figure 1). Among them, in four patients an abnormal number of sex chromosomes was seen in more than 40% of analysed cells. Twelve patients (12/114, 10.5%) had low-level X chromosome mosaicism (Figure 1). The mean age of women with true and low-level X chromosome mosaicism was 26.0 ± 5.65 years and ± 3.87 years, respectively (P < 0.001). Four women with low-level mosaicism had already delivered five offspring (four girls and one boy) and one woman with true X chromosome mosaicism had delivered one healthy boy. One live-born girl with true sex chromosome mosaicism was born to the mother with low-level X chromosome mosaicism. In one patient with true X chromosome mosaicism, pregnancy was initiated by an assisted reproduction technique (stimulation of ovulation). This study found cells with an abnormal number of X chromosomes in 25 out of 64 healthy women with regular menstrual cycles. The incidence of X chromosome loss was 1% to 3% (Figure 2). In two women, 1 2% of 47,XXX cells were found. No structural chromosome abnormalities were identified in the control group. Discussion This study evaluated the contribution of true and low-level X chromosome mosaicism to POF in phenotypically normal women with sporadic POF by routine G-banding chromosome analysis of at least 50 metaphases. Obviously FISH may be the most appropriate method of confirming suspected numerical mosaicism (Shaffer and Tommerup, 2005), particularly for detecting low-level X chromosome mosaicism (Lakhal et al., 2010; Devi and Benn, 1999). But according to the International System for Cytogenetic Nomenclature, numerical and structural abnormalities still have to be excluded at a banding level appropriate to the referral s guidelines (Gardner and Sutherland, 2003; Guttenbach et al., 1995; Shaffer and Tommerup, 2005). At least 50 cells have to be analysed to exclude the presence of 6% mosaicism with a 0.95 level of confidence (Hook, 1977). With an evaluation of 20 metaphases, only a mosaicism greater than 14% can be found with the same confidence. This study found mosaicism in 21.9% of patients by G-banding chromosome analysis, if the true and low-level mosaicism are regarded as identical abnormal results. Wu et al. (1993) reported five out of 61 (8.2%) POF cases with X chromosome mosaicism. In a Hong Kong group of 312 women with secondary amenorrhoea, 11 cases with karyotype 45,X/46,XX and three with mosaic triple/poly X (Wong and Lam, 2005) were found. Lakhal et al. (2010) detected 34 (5.9%) patients with homogeneous or mosaic X-chromosome aneuploidy out of 568 with secondary amenorrhoea. But in all patients, karyotype analysis using R-banding was performed on only 20 metaphases. By contrast, Portnoi et al. (2006) identified no 45, X/46,XX or 46,XX/47,XXX chromosome mosaicisms in any of their POF patients or controls. Compared with POF studies, more data is available on X chromosome mosaicism in women with primary amenorrhoea or Turner syndrome (Birkebaek et al., 2002; Cortés-Gutiérrez et al., 2007;
3 Low-level X chromosome mosaicism and POF 401 Figure 1 The incidence of X aneuploid cells in women with sporadic idiopathic premature ovarian failure (POF). Only patients with more than 5% of X aneuploid cells are presented. Figure 2 The incidence of cells with X aneuploidy in the control group. If the initial cytogenetic analysis revealed any cells with sex chromosome hypo- or hyperploidy, at least 100 cells were counted and analysed. In 25 out of 64 healthy women the incidence of X chromosome loss was 1 3%. Sybert and McCauley, 2004; Wong and Lam, 2005). Karyotyping and some mutation analyses of samples taken from patients with phenotypic features suggestive of Turner syndrome, primary amenorrhoea or gonadal dysgenesis are part of the centre s ongoing study. In the present study, true X chromosome mosaicism was found in 11.4% of women with sporadic idiopathic POF and low-level mosaicism in 10.5%. There is no consensus on the definition of low-level mosaicism, which has been considered as the presence of <10% of abnormal cells, <6% of abnormal cells or even as a concept which should not be reported at all (Morel et al., 2002; Shaffer and Tommerup, 2005). According to the present results, it is presumed that there are at least two different subgroups of patients with X chromosome mosaicism. The mean age of women with true and low-level X chromosome mosaicism was significantly different (26.0 ± 5.65 years and ± 3.87 years, respectively). Although peripheral blood does not reflect the situation in other tissues well, i.e. in ovarian tissue, the onset of POF occurred earlier in women with more than 10% of aneuploid cells. In all patients, karyotyping was performed within a 12-month period after the last menses. The major difficulty that affects studies aimed at revealing the effects of mosaicism is the definition of a non-pathogenic level of aneuploidy in a specific tissue. Therefore control studies of unaffected individuals are required. However, in the low-level subgroup of women with sporadic POF, this study detected a significantly higher level of X chromosome loss than in the age-matched controls (P < 0.01). Healthy women aged years show monosomy X at a rate from 2.5% to 3.1% (Guttenbach et al., 1995; Russell et al., 2007). The present analysis reached a similar result. It is presumed that there are different aetiological causes for true and low-level X chromosome mosaicism. True X blood mosaicism probably reflects the cytogenetic characteristics of ovarian tissue. It could be the result of mitotic errors that appear during the cleavage stage of an early embryo, probably during blastogenesis and can involve all three germ layers. The nature of the mosaicism is not known. Some indirect observations suggest that it may originate from a process of trisomy rescue and that it increases with maternal age (Kuliev and Verlinsky, 2004). In a mosaic ovary, aberrant X chromosome pairing and impaired genetic control of chromosomal nondisjunction may cause premature germ cell death and thus decrease the number of germ cells and accelerate oocyte atresia as well as cause post-natal destruction of germ cells (Gardner and Sutherland, 2003; Kuo and Guo, 2004). One obvious explanation could also lie in the haploinsufficiency of loci on the X chromosome (Simpson, 2008).
4 402 K Gersak, A Veble The impact of low-level X chromosome mosaicism on ovarian or menstrual function is a poorly described phenomenon and the pathogenesis is not clear. Current data suggest that the process of aneuploidization has the potential to produce tissue- and organ-specific chromosomal mosaicism during both embryonic differentiation and post-natal development (Iourov et al., 2008). Chromosomal mosaicism has the potential to mediate intercellular diversity and is suggested to be a key process that accelerates ageing. It was observed in ovarian germline tissues and in the brain. Low-level X mosaicism in the ovaries and in peripheral blood might also be caused by this process. The diseases associated with chromosomal mosaicism also include complex neuropsychiatric and immune diseases (Iourov et al., 2008; Persani et al., 2009). X monosomy is more frequent in T and B lymphocytes than in other blood cell populations in women with systemic sclerosis and autoimmune thyroid disease (Invernizzi et al., 2005). Recently published data focused on different human pathogenic conditions (Wise et al., 2009) and suggest future biomedical research. On the other hand, accelerated ageing can be linked with the limited oocyte pool and/or their suboptimal state of development due to mutations in genes that primarily affect follicle function. It is well known that both the short and long arms of the X chromosome contain genes important for ovarian function (Duzcan et al., 2003; Portnoi et al., 2006). Oocyte quality can also be influenced by deficiency or overexpression of specific gene products on the X chromosome (Rizzolio et al., 2009). Genes that are primarily expressed in the ovaries are BMP15, GDF9 and GPR3. Bone morphogenetic protein 15 and growth/differentiation factor 9 are members of the transforming growth factor b superfamily. They are involved in oocyte maturation and follicular development (Di Pasquale et al., 2004; Dube et al., 1999; Hreinsson et al., 2002; Kovanci et al., 2007; McGrath et al., 1995). G-protein coupled receptor 3 is a transmembrane receptor that is involved in signal transduction. It maintains meiotic arrest in mammalian oocytes and is thought to be a communication link between oocytes and the surrounding somatic tissue (Mehlmann et al., 2004; Song et al., 1996). In conclusion, routine cytogenetic analyses should be performed for women with unexplained sporadic POF even when there are no other clinical features suggestive of chromosome abnormality. This standpoint has practical implications for genetic counselling and fertility treatment. To search and confirm the low-level mosaicism a higher number of metaphases should be analysed or additional FISH analysis must be performed. Although peripheral blood does not reflect the situation in ovarian tissue well, it is presumed that there are different aetiological causes for true and low-level X chromosome mosaicism. According to this assumption, further clinical studies are required. Acknowledgements The authors would like to thank the laboratory and clinical staff of the Institute of Medical Genetics for their excellent technical assistance, K. Writzl, MD, PhD for advices on final revision and Mr B.M. Gersak for revision of the English text. References Bione, S., Toniolo, D., X chromosome genes and premature ovarian failure. Semin. Reprod. Med. 18, Birkebaek, N.H., Crüger, D., Hansen, J., Nielsen, J., Bruun-Petersen, G., Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin. Genet. 61, Cortés-Gutiérrez, E.I., Dávila-Rodríguez, M.I., Vargas-Villarreal, J., Cerda-Flores, R.M., Prevalence of chromosomal aberrations in Mexican women with primary amenorrhoea. Reprod. Biomed. Online 15, Devi, A., Benn, P.A., X-Chromosome abnormatities in women with premature ovarian failure. J. Reprod. Med. 44, Di Pasquale, E., Beck-Peccoz, P., Persani, L., Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am. J. Hum. Genet. 75, van Dooren, M.F., Bertoli-Avellab, A.M., Oldenburg, R.A., Premature ovarian failure and gene polymorphisms. Curr. Opin. Obstet. Gynecol. 21, Dube, J.L., Wang, P., Elvin, J., Lyons, K.M., Celeste, A.J., Matzuk, M.M., The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol. Endocrinol. 12, Duzcan, F., Atmaca, M., Cetin, G.O., Bagci, H., Cytogenetic studies in patients with reproductive failure. Acta Obstet. Gynecol. Scand. 82, Gardner, R.J.M., Sutherland, G.R., Parental sex chromosome aneuplody. In: Gardner, R.J.M., Sutherland, G.R. (Eds.), Chromosome Abnormalities and Genetic Counseling. Oxford University Press, New York, pp Gersak, K., Harris, S.E., Smale, W.J., Shelling, A.N., A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report. Hum. Reprod. 19, Gersak, K., Writzl, K., Veble, A., Liehr, T., 2010a. Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome. Genet. Couns 21, Gersak, K., Franic, D., Veble, A., Pajnic, I.Z., Teran, N., Writzl, K., 2010b. Premature ovarian failure with FMzR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism. Climacteric, in press. doi: / Goswami, D., Conway, G.S., Premature ovarian failure. Hum. Reprod. Update 11, Guttenbach, M., Koschorz, B., Bernthaler, U., Grimm, T., Schmid, M., Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am. J. Hum. Genet. 57, Harris, S.E., Chand, A.L., Winship, I.M., Gersak, K., Aittomäki, K., Shelling, A.N., Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol. Hum. Reprod. 8, Hook, E.B., Exclusion of chromosomal mosaicism: table of 90%, 95% and 99% confidence limits and comments on use. Am. J. Hum. Genet. 29, Hreinsson, J., Scott, J., Rasmussen, C., Swahn, M., Hsueh, A., Hovatta, O., Growth differentiation factor-9 promotes the growth, development ± survival of human ovarian follicles in organ culture. J. Clin. Endocrinol. Metab. 87, Invernizzi, P., Miozzo, M., Selmi, C., et al., X chromosome monosomy: a common mechanism for autoimmune diseases. J. Immunol. 175, Iourov, I.Y., Vorsanova, S.G., Yurov, Y.B., Chromosomal mosaicism goes global. Mol. Cytogenet. 25, Kovanci, E., Rohozinski, J., Simpson, J., Heard, M., Bishop, C., Carson, S., Growth differentiating factor-9 mutations may be associated with premature ovarian failure. Fertil. Steril. 87,
5 Low-level X chromosome mosaicism and POF 403 Kuliev, A., Verlinsky, Y., Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis. Hum. Reprod. Update 10, Kuo, P.L., Guo, H.R., Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. Fertil. Steril. 82, Lakhal, B., Braham, R., Berguigua, R., et al., Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clin. Genet. 78, McGrath, S.A., Esquela, A.F., Lee, S.J., Oocyte-specific expression of growth/differentiation factor-9. Mol. Endocrinol. 9, Mehlmann, L.M., Saeki, Y., Tanaka, S., et al., The Gs-linked receptor GPR3 maintains meiotic arrest in mammalian oocytes. Science 306 (5703), Morel, F., Gallon, F., Amice, V., et al., Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 17, Persani, L., Rossetti, R., Cacciatore, C., Bonomi, M., Primary ovarian insufficiency: X chromosome defects and autoimmunity. J. Autoimmun. 33, Portnoi, M.F., Aboura, A., Tachdjian, G., et al., Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum. Reprod. 21, Rizzolio, F., Pramparo, T., Sala, C., et al., Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome. J. Med. Genet. 46, Russell, L.M., Strike, P., Browne, C.E., Jacobs, P.A., X chromosome loss and ageing. Cytogenet. Genome. Res. 116, Santoro, A., Research on the mechanisms of premature ovarian failure. J. Soc. Gynecol. Investig. 8 (Suppl.), S10 S22. Shaffer, L.G., Tommerup, N., An International System for Human Cytogenetic Nomenclature (Cytogenetic and Genome Research). Karger, Basel. Shelling, A.N., Burton, K.A., Chand, A.L., et al., Inhibin: a candidate gene for premature ovarian failure. Hum. Reprod. 15, Simpson, J.L., Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes Ann. N. Y. Acad. Sci. 11, Song, Z.H., Modi, W., Bonner, T.I., Molecular cloning and chromosomal localization of human genes encoding three closely related G protein-coupled receptors. Genomics 28, Sybert, V., McCauley, E., Turner s syndrome. N. Eng. J. Med. 351, Wise, J.L., Crout, R.J., McNeil, D.W., Weyant, R.J., Marazita, M.L., Wenger, S.L., Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization. PLoS. One 10, e5855. Wong, M.S., Lam, S.T., Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study. Hong Kong Med. J. 11, Wu, R.C., Kuo, P.L., Lin, S.J., Liu, C.H., Tzeng, C.C., X chromosome mosaicism in patients with recurrent abortion or premature ovarian failure. J. Formos. Med. Assoc. 92, Declaration: This work was supported by grant from the Ministry of Higher Education, Science and Technology of the Republic of Slovenia (Grant No. P3 0124). Received 29 April 2010; refereed 3 January 2011; accepted 4 January 2011.
Short Report. B Lakhal a, R Braham b, R Berguigua a, N Bouali a, M Zaouali c, M Chaieb b, RA Veitia d,e,f, A Saad a,g and H Elghezal a,g
Clin Genet 2010: 78: 181 185 Printed in Singapore. All rights reserved Short Report 2010 John Wiley & Sons A/S CLINICAL GENETICS doi: 10.1111/j.1399-0004.2009.01359.x Cytogenetic analyses of premature
More informationSesh Kamal Sunkara Aberdeen Fertility Centre Aberdeen Maternity Hospital University of Aberdeen Aberdeen, UK
Sesh Kamal Sunkara Aberdeen Fertility Centre Aberdeen Maternity Hospital University of Aberdeen Aberdeen, UK Declared no potential conflict of interest Genetic aetiology of poor and hyper responders Sesh
More informationWe are IntechOpen, the world s leading publisher of Open Access books Built by scientists, for scientists. International authors and editors
We are IntechOpen, the world s leading publisher of Open Access books Built by scientists, for scientists 3,900 116,000 120M Open access books available International authors and editors Downloads Our
More informationCHAPTER-VII : SUMMARY AND CONCLUSIONS
CHAPTER-VII : SUMMARY AND CONCLUSIONS 199 SUMMARY AND CONCLUSIONS t The rapid development of human genetics during the past couple of decades and the discovery of numerous cytogenetic abnormalities have
More informationA Retrospective Cytogenetic Study of Chromosomal Abnormalities in Infertile Couples of Indian Origin
Available online at www.scholarsresearchlibrary.com Scholars Research Library Der Pharmacia Lettre, 2017, 9 [4]:44-56 [http://scholarsresearchlibrary.com/archive.html] ISSN 0975-5071 USA CODEN: DPLEB4
More informationChromosomal Structural Abnormalities among Filipino Couples with Recurrent Pregnancy Losses
ORIGINAL CASE REPORT ARTICLE Chromosomal Structural Abnormalities among Filipino Couples with Recurrent Pregnancy Losses Eva Maria Cutiongco-dela Paz,,2 April Grace Dion-Berboso, Edsel Allan G. Salonga
More informationA Stepwise Approach to Embryo Selection and Implantation Success
Precise Genetic Carrier Screening An Overview A Stepwise Approach to Embryo Selection and Implantation Success Put today s most advanced genetic screening technology to work for you and your family s future.
More informationOverview of Reproductive Endocrinology
Overview of Reproductive Endocrinology I have no conflicts of interest to report. Maria Yialamas, MD Female Hypothalamic--Gonadal Axis 15 4 Hormone Secretion in the Normal Menstrual Cycle LH FSH E2, Progesterone,
More informationChromosome heteromorphisms are more frequent in couples with recurrent abortions
Chromosome heteromorphisms are more frequent in couples with recurrent abortions H. Akbaş 1, H. İsi 2, D. Oral 2, A. Türkyılmaz 2, S. Kalkanlı-Taş 2, S. Şimşek 2, M. Balkan 2, M.N. Sakar 3, M. Fidanboy
More informationCanadian College of Medical Geneticists (CCMG) Cytogenetics Examination. May 4, 2010
Canadian College of Medical Geneticists (CCMG) Cytogenetics Examination May 4, 2010 Examination Length = 3 hours Total Marks = 100 (7 questions) Total Pages = 8 (including cover sheet and 2 pages of prints)
More informationChromosome Abnormalities
Chromosome Abnormalities Chromosomal abnormalities vs. molecular mutations Simply a matter of size Chromosomal abnormalities are big errors Two types of abnormalities 1. Constitutional problem present
More informationChromosome pathology
Chromosome pathology S. Dahoun Department of Gynecology and Obstetrics, University Hospital of Geneva Cytogenetics is the study of chromosomes and the related disease states caused by abnormal chromosome
More informationIOF POI. hypergonadotropic hypogonadism primary ovarian insufficiency POI /premature ovarian failure POF. Van Kasteren. Coulam POI FSH E.
hypergonadotropic hypogonadism primary ovarian insufficiency POI /premature ovarian failure POF Coulam POI Turner Fragile X premutation FSHR NOBOX FOXL etc POI FSH miu/ml AMH AMH AMH FSH / Knauff POI IOF
More informationIncidence of Chromosomal Abnormalities from a Morphologically Normal Cohort of Embryos in Poor- Prognosis Patients
Incidence of Chromosomal Abnormalities from a Morphologically Normal Cohort of Embryos in Poor- Prognosis Patients M. C. MAGLI,1 L. GIANAROLI,1,3 S. MUNNE,2 and A. P. FERRARETTI1 Submitted: December 29,
More informationPreimplantation Genetic Testing
Protocol Preimplantation Genetic Testing (40205) Medical Benefit Effective Date: 01/01/14 Next Review Date: 09/14 Preauthorization No Review Dates: 09/11, 09/12, 09/13 The following Protocol contains medical
More informationSynchronization between embryo development and endometrium is a contributing factor for rescue ICSI outcome
Reproductive BioMedicine Online (2012) 24, 527 531 www.sciencedirect.com www.rbmonline.com ARTICLE Synchronization between embryo development and endometrium is a contributing factor for rescue ICSI outcome
More informationFemale Reproductive Physiology. Dr Raelia Lew CREI, FRANZCOG, PhD, MMed, MBBS Fertility Specialist, Melbourne IVF
Female Reproductive Physiology Dr Raelia Lew CREI, FRANZCOG, PhD, MMed, MBBS Fertility Specialist, Melbourne IVF REFERENCE Lew, R, Natural History of ovarian function including assessment of ovarian reserve
More informationIVF treatment should not be postponed for patients with high basal FSH concentrations
Reproductive BioMedicine Online (2010) 21, 631 635 www.sciencedirect.com www.rbmonline.com SHORT COMMUNICATION IVF treatment should not be postponed for patients with high basal FSH concentrations Ettie
More informationA Retrospective Study of Balanced Chromosomal Translocations in a Turkish Population
Kamla-Raj 2012 Int J Hum Genet, 12(4): 319-323 (2012) A Retrospective Study of Balanced Chromosomal Translocations in a Turkish Population N. Karakus 1, N. Kara 1, S. Tural 1, I. Kocak 2 and M. Elbistan
More informationCYTOGENETICS Dr. Mary Ann Perle
CYTOGENETICS Dr. Mary Ann Perle I) Mitosis and metaphase chromosomes A) Chromosomes are most fully condensed and clearly distinguishable during mitosis. B) Mitosis (M phase) takes 1 to 2 hrs and is divided
More information7.1 Molecular Characterization of Fragile X Syndrome
7 GENETIC DISORDERS Advances in knowledge of molecular genetics, cytogenetics and biochemical genetics have led to availability of diagnostic tests for various genetic disorders. The most important application
More informationStructural Chromosome Aberrations
Structural Chromosome Aberrations 2 Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics.
More informationThe association between anti-müllerian hormone and IVF pregnancy outcomes is influenced by age
Reproductive BioMedicine Online (2010) 21, 757 761 www.sciencedirect.com www.rbmonline.com ARTICLE The association between anti-müllerian hormone and IVF pregnancy outcomes is influenced by age Jeff G
More informationCytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study!"#$%&'$%()*+,-./01234!"#
Key words: Amenorrhea; Chromosome aberrations; Karyotyping; Ovarian failure, premature!!"!"#! MSF Wong STS Lam Hong Kong Med J 005;11:77 Department of Obstetrics and Gynaecology, Kwong Wah Hospital, 5
More informationIVM in PCOS patients. Introduction (1) Introduction (2) Michael Grynberg René Frydman
IVM in PCOS patients Michael Grynberg René Frydman Department of Obstetrics and Gynecology A. Beclere Hospital, Clamart, France Maribor, Slovenia, 27-28 February 2009 Introduction (1) IVM could be a major
More informationCommittee Paper SCAAC(05/09)01. ICSI guidance. Hannah Darby and Rachel Fowler
Committee Paper Committee: Scientific and Clinical Advances Advisory Committee Meeting Date: 12 May 2009 Agenda Item: 4 Paper Number: SCAAC(05/09)01 Paper Title: ICSI guidance Author: Hannah Darby and
More informationNeil Goodman, MD, FACE
Initial Workup of Infertile Couple: Female Neil Goodman, MD, FACE Professor of Medicine Voluntary Faculty University of Miami Miller School of Medicine Scope of Infertility in the United States Affects
More informationManagement of Patients With Premature Ovarian Insufficiency
Management of Patients With Premature Ovarian Insufficiency Prof. Dr. H. Cavidan Gülerman Sağlık Bilimleri Üniversitesi Ankara Dr. Zekai Tahir Burak SUAM XII. Türk Alman Jinekoloji Kongresi 28 Nisan 2018
More informationSubfertility/Infertility Assessment in the Medical Laboratory
Article Subfertility/Infertility Assessment in the Medical Laboratory PD Dr. med. habil. Michaela Jaksch, Consultant Laboratory Medicine, Medical Director, Freiburg Medical Laboratory ME LLC, Dubai, UAE
More informationISSN CHROMOSOME STUDY IN SUSPECTED CASES OF TURNER S SYNDROME FROM JAMMU REGION OF JAMMU & KASHMIR
J. Adv. Zool. 2018: 39(1): 32-36 ISSN-0253-7214 CHROMOSOME STUDY IN SUSPECTED CASES OF TURNER S SYNDROME FROM JAMMU REGION OF JAMMU & KASHMIR Wahied Khawar Balwan and Neelam Saba *Department of Zoology,
More informationPreimplantation genetic diagnosis
Preimplantation genetic diagnosis Borut Peterlin Clinical institute of medical genetics, University Medical Centre Ljubljana Outline of the presentation Primary prevention of genetic diseases Motivation
More informationOriginal Policy Date
MP 2.04.77 Preimplantation Genetic Testing Medical Policy Section OB/Gyn/Reproduction Issue 12:2013 Original Policy Date 12:2013 Last Review Status/Date Reviewed with literature search/12:2013 Return to
More informationCytogenetics Findings at Turner Syndrome and their Correlation with Clinical Findings
& Cytogenetics Findings at Turner Syndrome and their Correlation with Clinical Findings Amra Ćatović* Center for Human Genetics, Medical Faculty, University of Sarajevo, Čekaluša 90, 71000 Sarajevo, Bosnia
More informationS.Kahraman 1,4, M.Bahçe 2,H.Şamlı 3, N.İmirzalıoğlu 2, K.Yakısn 1, G.Cengiz 1 and E.Dönmez 1
Human Reproduction vol.15 no.9 pp.2003 2007, 2000 Healthy births and ongoing pregnancies obtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation
More informationChromosomes and Human Inheritance. Chapter 11
Chromosomes and Human Inheritance Chapter 11 11.1 Human Chromosomes Human body cells have 23 pairs of homologous chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Autosomes and Sex Chromosomes
More informationCURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi
2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000
More informationGENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP
GENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP University of New Mexico 1. General Description: UNM MFM fellows rotate through genetics during their PGY5 and PGY7 years. The PGY5 fellow
More informationLecture 17: Human Genetics. I. Types of Genetic Disorders. A. Single gene disorders
Lecture 17: Human Genetics I. Types of Genetic Disorders A. Single gene disorders B. Multifactorial traits 1. Mutant alleles at several loci acting in concert C. Chromosomal abnormalities 1. Physical changes
More informationChapter 15 Notes 15.1: Mendelian inheritance chromosome theory of inheritance wild type 15.2: Sex-linked genes
Chapter 15 Notes The Chromosomal Basis of Inheritance Mendel s hereditary factors were genes, though this wasn t known at the time Now we know that genes are located on The location of a particular gene
More informationUnderstanding the Human Karyotype Colleen Jackson Cook, Ph.D.
Understanding the Human Karyotype Colleen Jackson Cook, Ph.D. SUPPLEMENTAL READING Nussbaum, RL, McInnes, RR, and Willard HF (2007) Thompson and Thompson Genetics in Medicine, 7th edition. Saunders: Philadelphia.
More informationChromosomal Aneuploidy
The Many Advantages of Trophectoderm Biopsy Compared to Day 3 Biopsy for Pre- Implantation Genetic Screening (PGS) Mandy Katz-Jaffe, PhD Chromosomal Aneuploidy Trisomy 21 Fetus Aneuploidy is the most common
More informationBMP15 and GDF9 Gene Mutations in Premature Ovarian Failure
Original Article BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure Ravindra Kumar 1, Madhuri Alwani 2, Susmit Kosta 1, Ravjyot Kaur 2, Sarita Agarwal 3 1- Central Research Laboratory, Sri Aurobindo
More informationTreatment issues for women with BRCA germline mutation
Treatment issues for women with BRCA germline mutation Overview Fertility and reproductive lifespan The impact of reproductive life on breast and ovarian cancer risk Screening recommendations during pregnancy
More informationINFERTILITY GENETIC TESTING. Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science
INFERTILITY GENETIC TESTING Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science INFERTILITY GENETIC TESTING It is estimated that genetics are
More informationPolar Body Approach to PGD. Anver KULIEV. Reproductive Genetics Institute
Polar Body Approach to PGD Anver KULIEV Reproductive Genetics Institute DISCLOSURE othing to disclose 14 History of Polar Body Approach 14 First proposed in World Health Organization s Document Perspectives
More informationMutations. New inherited traits, or mutations, may appear in a strain of plant or animal.
Genetic Mutations Mutations New inherited traits, or mutations, may appear in a strain of plant or animal. The first individual showing the new trait is called a mutant. 2 Types of Mutations Chromosomal
More informationPremature Menopause : Diagnosis and Management
Guideline Number 3 : August 2010 Premature Menopause : Diagnosis and Management Introduction : Premature menopause is a serious condition that affects young women and remains an enigma. The challenges
More informationCHROMOSOMAL NUMERICAL ABERRATIONS INSTITUTE OF BIOLOGY AND MEDICAL GENETICS OF THE 1 ST FACULTY OF MEDICINE
CHROMOSOMAL NUMERICAL ABERRATIONS INSTITUTE OF BIOLOGY AND MEDICAL GENETICS OF THE 1 ST FACULTY OF MEDICINE CHROMOSOMAL ABERRATIONS NUMERICAL STRUCTURAL ANEUPLOIDY POLYPLOIDY MONOSOMY TRISOMY TRIPLOIDY
More informationModified natural cycle IVF and mild IVF: a 10 year Swedish experience
Reproductive BioMedicine Online (2010) 20, 156 162 www.sciencedirect.com www.rbmonline.com ARTICLE Modified natural cycle IVF and mild IVF: a 10 year Swedish experience Arthur Aanesen *, Karl-Gösta Nygren,
More informationArticles Polar body-based preimplantation diagnosis for X-linked disorders
RBMOnline - Vol 4. No 1. 38 42 Reproductive BioMedicine Online; www.rbmonline.com/article/384 on web 20 November 2001 Articles Polar body-based preimplantation diagnosis for X-linked disorders Dr Yury
More informationIndications for chromosome screening Dagan Wells, PhD, FRCPath dagan.wells@obs-gyn.ox.ac.ukgyn.ox.ac.uk Chromosome imbalance (aneuploidy) Uncontroversial data The incidence of aneuploidy Aneuploidy is
More informationChromosomes and Gene Expression. Exceptions to the Rule other than sex linked traits
Chromosomes and Gene Expression Exceptions to the Rule other than sex linked traits Chromosome Inactivation If girls have two X chromosomes, do they produce more proteins than boys with only one X chromosome???
More informationRejuvenation of Gamete Cells; Past, Present and Future
Rejuvenation of Gamete Cells; Past, Present and Future Denny Sakkas PhD Scientific Director, Boston IVF Waltham, MA, USA Conflict of Interest I have no conflict of interest related to this presentation.
More informationInfertility testing. Global infertility panel. Patient information. Informations for patients
Global infertility panel Infertility testing Informations for patients Patient information Each of your body cells contains your genetic information called DNA. DNA carries all the information you need
More informationCytogenetic Studies in Indian Population suspected to have Klinefelter syndrome
Journal of Advanced Research in Biology Volume 1, Issue 1&2-2018, Pg. No. 21-25 Peer Reviewed Journal Research Article Cytogenetic Studies in Indian Population suspected to have Klinefelter syndrome Shailesh
More informationArticle Influence of spermatogenic profile and meiotic abnormalities on reproductive outcome of infertile patients
RBMOnline - Vol 10. No 6. 2005 735 739 Reproductive BioMedicine Online; www.rbmonline.com/article/1678 on web 13 April 2005 Article Influence of spermatogenic profile and meiotic abnormalities on reproductive
More informationPrenatal Diagnosis: Are There Microarrays in Your Future?
Financial Disclosure UCSF Antepartum Intrapartum Management Course June 8 I have no financial relationship with any aspect of private industry Prenatal Diagnosis: Are There Microarrays in Your Future?
More informationPreimplantation genetic diagnosis: polar body and embryo biopsy
Human Reproduction, Vol. 15, (Suppl. 4), pp. 69-75, 2000 Preimplantation genetic diagnosis: polar body and embryo biopsy Luca Gianaroli SISMER, Via Mazzini 12, 40138 Bologna, Italy Scientific Director
More informationPrimary Ovarian Insufficiency (POI)
Primary Ovarian Insufficiency (POI) Aaron Lim, M.D., M.B.A. Division of Reproductive Endo & Inf Dept of Obstetric-Gynecology Kaiser Downey Medical Center Assistant Clinical Professor UCLA David Geffen
More informationArticle Pre-embryonic diagnosis for Sandhoff disease
RBMOnline - Vol 12. No 3. 2006 328-333 Reproductive BioMedicine Online; www.rbmonline.com/article/2100 on web 9 January 2006 Article Pre-embryonic diagnosis for Sandhoff disease Dr Anver Kuliev received
More informationEVOLVE FERTILITY GENETIC SCREENS
LEADERS IN GENETIC FERTILITY SCREENING TM FOR MEN & WOMEN EVOLVE FERTILITY GENETIC SCREENS The most advanced and comprehensive fertility genetic screens on the market today. SCREEN TODAY. PROTECT TOMORROW.
More informationLearning Outcomes: The following list provides the learning objectives that will be covered in the lectures, and tutorials of each week:
Course Code Course Title ECTS Credits MED-306 Medical Genetics 6 School Semester Prerequisites Medical School Spring (Semester 6) MED-103 Biology I MED-109 Biology II MED-204 Biochemistry I MED-209 Biochemistry
More informationApplication of OMICS technologies on Gamete and Embryo Selection
Application of OMICS technologies on Gamete and Embryo Selection Denny Sakkas, Ph.D. Scientific Director, Boston IVF Waltham, MA, USA THE FUTURE ROLE OF THE EMBRYOLOGIST WILL FOCUS ON PROVIDING OUR PATIENTS
More informationThe Chromosomal Basis Of Inheritance
The Chromosomal Basis Of Inheritance Chapter 15 Objectives Explain the chromosomal theory of inheritance and its discovery. Explain why sex-linked diseases are more common in human males than females.
More informationchromosomal anomalies and mental pdf Chapter 8: Chromosomes and Chromosomal Anomalies (PDF) Chromosomal abnormalities -A review - ResearchGate
DOWNLOAD OR READ : CHROMOSOMAL ANOMALIES AND MENTAL RETARDATION FROM GENOTYPES TO NEUROPSYCHOLOGICAL PHENOTYPES OF GENETIC SYNDROMES AT HIGH INCIDENCEGENOTYPE TO PHENOTYPE PDF EBOOK EPUB MOBI Page 1 Page
More informationFiliberto Di Prospero, M.D. MENOPAUSE. Premature Ovarian Failure. Comunichiamo La Salute, Scientific Cultural Association
Filiberto Di Prospero, M.D. E A R L Y MENOPAUSE Premature Ovarian Failure Comunichiamo La Salute, Scientific Cultural Association www.comunichiamolasalute.org INDEX Important notice 3 Acnowledgments 3
More informationIVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW
IVF AND PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) WHAT THE COMMUNITY PHYSICIAN NEEDS TO KNOW Jon Havelock, MD, FRCSC, FACOG Co-Director - PCRM Disclosure No conflict of interest in relation
More informationGenetics of female infertility: A review
(International Journal for Biology, Ecology and Allied Sciences) ABSTRACT Genetics of female infertility: A review S. Das* and B. Deb Bioinformatics Centre, Gurucharan College, Silchar, 788004, Assam The
More informationThe Chromosomal Basis of Inheritance
Chapter 15 The Chromosomal Basis of Inheritance PowerPoint Lectures for Biology, Seventh Edition Neil Campbell and Jane Reece Lectures by Chris Romero Overview: Locating Genes on Chromosomes A century
More informationCYTOGENETIC ANALYSIS OF PREMATURE OVARIAN FAILURE PATIENTS
Original Research Article CYTOGENETIC ANALYSIS OF PREMATURE OVARIAN FAILURE PATIENTS Ashish Sharma * 1, Tarsem kumar 2, Rima dada 3. ABSTRACT International Journal of Anatomy and Research, Int J Anat Res
More informationEVOLVE GENETIC FERTILITY SCREENS
LEADERS IN GENETIC FERTILITY SCREENING TM FOR MEN & WOMEN EVOLVE GENETIC FERTILITY SCREENS The most advanced and comprehensive pre-ivf fertility screens on the market today. SCREEN TODAY. PROTECT TOMORROW.
More informationPreimplantation Genetic Testing Where are we going? Genomics Clinical Medicine Symposium Sept 29,2012 Jason Flanagan, MS,CGC
Preimplantation Genetic Testing Where are we going? Genomics Clinical Medicine Symposium Sept 29,2012 Jason Flanagan, MS,CGC Overview Discuss what PGD and PGS are Pt examples What we have learned Where
More informationPrijevremena insuficijencija jajnika (dijagnoza, terapija, socijalno zamrzavanje) / Premature ovarian failure (diagnosis, therapy, social freezing)
Prijevremena insuficijencija jajnika (dijagnoza, terapija, socijalno zamrzavanje) / Premature ovarian failure (diagnosis, therapy, social freezing) Miro Šimun Alebić -50000 folikula Mahajan N. Fertility
More informationMeiosis. Formation of gamete = egg & sperm. Occurs only in ovaries and tees. Makes cells with haploid chromosome number
Meiosis Formation of gamete = egg & sperm Occurs only in ovaries and tees Makes cells with haploid chromosome number Meiosis Diploid= Full set of chromosomes 46 chromosomes in humans Found in most body
More informationIVF Michigan, Rochester Hills, Michigan, and Reproductive Genetics Institute, Chicago, Illinois
FERTILITY AND STERILITY VOL. 80, NO. 4, OCTOBER 2003 Copyright 2003 American Society for Reproductive Medicine Published by Elsevier Inc. Printed on acid-free paper in U.S.A. CASE REPORTS Preimplantation
More informationChapter 11. Chromosomes and Human Inheritance
Chapter 11 Chromosomes and Human Inheritance Human Chromosomes Human body cells have 23 pairs of homologous chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Autosomesand Sex Chromosomes Paired
More informationEffect of Reciprocal Translocations on Phenotypic Abnormalities
Kamla-Raj 2010 Int J Hum Genet, 10(1-3): 113-119 (2010) Effect of Reciprocal Translocations on Phenotypic Abnormalities Preetha Tilak Division of Human Genetics, Department of Anatomy, St. John s Medical
More informationMuch ha happened since Mendel
Chapter 15 Chromosomal Basis of Inheritance Much ha happened since Mendel We can show genes are located at particular loci on chromosomes Using fluorescent dye to mark a particular gene 1 The use of these
More information06-Mar-17. Premature menopause. Menopause. Premature menopause. Menstrual cycle oestradiol. Premature menopause. Prevalence ~1% Higher incidence:
Menopause Dr Sonia Davison MBBS FRACP PhD Endocrinologist and Clinical Fellow, Jean Hailes for Women s Health Women s Health Research Program, Monash University = the last natural menstrual period depletion
More information2017 United HealthCare Services, Inc.
UnitedHealthcare Pharmacy Clinical Pharmacy Programs Program Number 2017 P 1143-4 Program Prior Authorization/Notification Medication Menopur (menotropins) * P&T Approval Date 8/2014, 5/2015, 5/2016, 5/2017
More informationSpontaneous recovery of ovarian function and fertility after cancer treatment
Rigshospitalet The Fertility Clinic Copenhagen, Denmark Spontaneous recovery of ovarian function and fertility after cancer treatment Kirsten Tryde Macklon, Ph.D. 5th society of reproductive medicine and
More informationAn Update on PGD: Where we are today
An Update on PGD: Where we are today Joyce Harper UCL Centre for PG&D and CRGH Institute for Womens Health University College London Overview What is PGD/PGS How we do it Disadvantages and advantages Future
More informationAre we Close to Solve the Mystery of Fragile X Associated Premature Ovarian Insufficiency (FXPOI) in FMR1 Premutation Carriers?
Are we Close to Solve the Mystery of Fragile X Associated Premature Ovarian Insufficiency (FXPOI) in FMR1 Premutation Carriers? Yoram Cohen M.D. Department of Obstetrics and Gynecology, IVF Unit, Sheba
More informationMedical Genetics. Nondisjunction Definition and Examples. Basic Structure of Chromosomes. See online here
Medical Genetics Nondisjunction Definition and Examples See online here Nondisjunction connotes failure of separation of homologous chromosomes during cell division. It has significant repercussions and
More informationDisclosure. Dagan Wells University of Oxford Oxford, United Kingdom
Disclosure Dagan Wells University of Oxford Oxford, United Kingdom Disclosure Declared to be member of the advisory board, board of directors or other similar groups of Illumina Objectives Consider Aneuploidy
More informationThe questions below refer to the following terms. Each term may be used once, more than once, or not at all.
The questions below refer to the following terms. Each term may be used once, more than once, or not at all. a) telophase b) anaphase c) prometaphase d) metaphase e) prophase 1) DNA begins to coil and
More informationIndex. Note: Page numbers of article titles are in boldface type.
Index Note: Page numbers of article titles are in boldface type. A Abdominal myomectomy in leiomyoma management, 77 Abnormal uterine bleeding (AUB) described, 103 105 normal menstrual bleeding vs., 104
More informationEVOLVE FERTILITYREADY TM SCREENS
FOR MEN & WOMEN EVOLVE FERTILITYREADY TM SCREENS Assess genetic factors that cause infertility and know more about your reproductive health. Be Proactive. SCREEN TODAY. PROTECT TOMORROW. #1 in Genetic
More informationThis fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing.
11111 Fact Sheet 54 FRAGILE X SYNDROME This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing. In summary Fragile X is a condition caused
More informationFERTILITY PRESERVATION. Juergen Eisermann, M.D., F.A.C.O.G South Florida Institute for Reproductive Medicine South Miami Florida
FERTILITY PRESERVATION Juergen Eisermann, M.D., F.A.C.O.G South Florida Institute for Reproductive Medicine South Miami Florida 1 2 3 4 Oocyte Cryopreservation Experimental option Offer to single cancer
More informationArticles Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation embryos
RBMOnline - Vol 5. No 3. 306 312 Reproductive BioMedicine Online; www.rbmonline.com/article/699 on web 12 September Articles Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation
More informationNEXCCS. Your guide to aneuploidy screening
NEXCCS Your guide to aneuploidy screening GROWING FAMILIES What is comprehensive chromosome screening? Comprehensive chromosome screening (CCS), also known as preimplantation genetic screening (PGS) or
More informationBIOLOGY - CLUTCH CH.15 - CHROMOSOMAL THEORY OF INHERITANCE
!! www.clutchprep.com Chromosomal theory of inheritance: chromosomes are the carriers of genetic material. Independent Assortment alleles for different characters sort independently of each other during
More informationDr Manuela Toledo - Procedures in ART -
Dr Manuela Toledo - Procedures in ART - Fertility Specialist MBBS FRANZCOG MMed CREI Specialities: IVF & infertility Fertility preservation Consulting Locations East Melbourne Planning a pregnancy - Folic
More informationAn International System for Human Cytogenetic Nomenclature (2013)
ISCN 2013 An International System for Human Cytogenetic Nomenclature (2013) Editors Lisa G. Shaffer Jean McGowan-Jordan Michael Schmid Recommendations of the International Standing Committee on Human Cytogenetic
More informationSperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15
Sperm analyses, Advances genetic in counselling Medical Sciences and therapy Vol. in 51 an infertile 2006 carrier of a supernumerary marker chromosome 15 31 Sperm analyses, genetic counselling and therapy
More information10/16/2014. Adolescents (ages 10 19) and young adults (ages 20 24) together compose about 21% of the population of the United States.
The purview of pediatrics includes the growth, development, and health of the child and therefore begins in the period before birth when conception is apparent. It continues through childhood and adolescence
More informationSNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts
J Assist Reprod Genet (2016) 33:1115 1119 DOI 10.1007/s10815-016-0734-0 TECHNOLOGICAL INNOVATIONS SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation
More informationMULTIPLE CHOICE QUESTIONS
SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in
More informationStructural Variation and Medical Genomics
Structural Variation and Medical Genomics Andrew King Department of Biomedical Informatics July 8, 2014 You already know about small scale genetic mutations Single nucleotide polymorphism (SNPs) Deletions,
More information