Chapter 3 Chromosomal Aberrations
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1 MEDICAL GENETICS
2 Chapter 3 Chromosomal Aberrations
3 Abnormalities of chromosomes may be either numerical or structural and may involve one or more autosomes, sex chromosomes, or both simultaneously. Numerical Aberrations Structural Aberrations
4 Numerical Aberrations A chromosome complement with any chromosome number other than 46 is said to be numerical aberrations. Numerical aberrations involve the loss and/or gain of a whole chromosome or chromosomes and can include both autosomes and sex chromosomes. Euploid Aneuploid
5 Euploid An exact multiple of the haploid chromosome number (n) is called euploid. Haploid Germ cells (egg and sperm) have 23 chromosomes: one copy of each autosome plus a single sex chromosome. This is referred to as the haploid number. Triploid A condition in which there is an extra copy of every chromosome. Tetraploid A condition in which there are two extra copies of every chromosome. 69,XXX 69,XXY 69,XYY 92,XXXX 92,XXYY
6 Triploid id
7 From cancer genetics and cytogenetics 143(2003):
8 Aneuploid An clinically significant chromosome abnormality which number due to an extra or missing chromosome. 1. Hyperdiploid p Somatic cells in which chromosome numbers are more than 46. Those cells with an extra chromosome show trisomy for the chromosome involved. Trisomy is the most common type. e.g. 47, XX(XY), +21 (Down Syndrome) 2. Hypodiploid Somatic cells in which chromosome numbers are less than 46. Cells which have lost a chromosome are monosomy for that chromosome. e.g. 45, X (Turner Syndrome)
9 Multicolor FISH analysis of interphase amniotic fluid cells 47,XX,+18 (trisomy 18) cell Chromosome 18 aqua, X chromosome green trisomy 21cells Ch 13 h Chromosome 13 green, chromosome 21 red
10 Mechanism of numerical aberration 1. Diandry and digyny The reason for triploid 2. Endoreplication i and endomitosis The reason for tetraploid 3. Mi Meiotic i nondisjunction dij i 4. Mitotic nondisjunction The reason for aneuploid The reason for mosaicism 5. Loss of chromosome Also the reason for mosaicism
11 Structural Aberration Quantities and positions of genetic material altered. Mechanism: Chromosomes were broken, fragments lost or connected to a wrong position. Description: number, sex chromosomes, abnormalities Brief pattern:using the breakpoints Detailed pattern:using the form of the bands in rearranged chromosomes symbols: p q ter pter qter cen t inv : :: del der i fra rob etc.
12 Some abbreviations used for description of chromosomes Abbreviation cen del der dic dup fra i ins inv mar mat p pat q r rcp rob t ter + - : :: / Meaning centromere deletion derivative dicentric chromosome duplication fragile site isochromosome insertion inversioni marker chromosome matermal origin short arm of chromosome paternal origin long arm of chromosome ring chromosome reciprocal translocation Robertsonian translocation translocation terminus gain of loss of break bea break and join mosaicism
13 Common structural aberrations Deletion, del Ring chromosome, r Translocation, t Inversion, inv Dicentric chromosome, dic Isochromosome, i
14 Deletion,del Deletions involve loss of material from a single chromosome. The effects are typically severe since there is a loss of genetic material. Terminal deletion Interstitial deletion
15 Terminal deletion A terminal segment of a chromosome is deleted.
16 Terminal deletion
17 loss Brief pattern: 46, XX(XY), del(1)(q21) Detailed pattern: 46, XX(XY), del(1)(pter q21:)
18 Notice: The detailed description usually begins from the terminal of short arm (pter), but when pter is deleted, it should begins from the terminal of long arm (qter). Eg E.g. Cri du chat syndrome Brief pattern:46, XX(XY), del(5)(p14) Detailed pattern:46, XX(XY), del(5)(qter p14:)
19 Interstitial iildl deletion An intermediary segment, i.e., excluding a centromere and terminal ends (telomeres), of a chromosome is deleted.
20 Interstitial i deletion
21 q21 q31 loss Brief pattern: 46, XX(XY), del(1)(q21q31) Detailed pattern: 46, XX(XY), del(1)(pter q21::q31 qter)
22 Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes
23 Gene imprinted (turned off) Gene not imprinted (turned on) D e l e t e d D e l e t e d Maternal DNA Paternal DNA Prader-Willi Syndrome Angelman Syndrome
24
25
26 Prader-Willi Syndrome Cause: Usually caused by micro deletion in region q11-13 of the paternally transmitted chromosome 15. Several genes in this region are genomically imprinted in the maternal chromosome. Hence, if there is a paternal deletion in this region, there are no active genes. Symptoms: Short stature Mental retardation, learning difficulties Decreased muscle tone Hypogonadism Emotional lability Unregulated appetite or hyperphagia ( obesity)
27 Prader Willi Syndrome
28 Tanis, a girl with PWS
29 Angelman Syndrome Cause: Microdeletion of region q11-13 of chromosome 15 that deletes a gene(s) that is paternally imprinted. Symptoms: Normal development until 6-12 months, then delayed development Disproportionate head growth microcephaly Abnormal EEG, seizures Marked deficit in language (no words to a few words) but better communication using nonvebral methods (e.g., facial expressions) Motoric problems (balance problems, ataxia of gait, hypermotoric actions) Attention problems (short attention span) Emotional exuberance (frequent laughter, smiling)
30 Angelman Syndrome
31 Angelman Syndrome
32 Ring chromosome, r Two broken ends of a chromosome have joined to form a ring-like structure. t
33 p21 loss q31 loss Brief pattern: 46, XX(XY), r(2)(p21q31) Detailed pattern: 46, XX(XY), r(2)(p21 q31) Notice: No ::
34 Translocation, t Translocations involve is the transfer of chromosomal materialexchange of material between two or more chromosomes. Reciprocal translocation Robertsonian translocation
35 Reciprocal translocation Reciprocal translocation ti is a translocation in which the segments of chromosomes have been exchanged.
36 Reciprocal translocation
37 2q21 der(2) 2 5q31 5 der(5) Brief pattern: 46,XX(XY),t(2;5)(q21;q31) Detailed pattern: 46,XX(XY),t(2;5)(2pter 2q21::5q31 5qter ; 5pter 5q31::2q21 2qter)
38 Notice: In reciprocal translocation between autosomes, the larger one should be described antecedently; In reciprocal translocation between sex chromosomes and autosomes, the sex chromosome should be described antecedently. eg e.g. 46,XX,t(X; 2)(q21; 2q31)
39 The best-known tumor-specific rearrangement produces the Philadelphia (Ph 1 ) chromosome, a very small acrocentric chromosome seen in 90% of patients with chronic myeloid leukemia. T(9;22)(q34;q11), The breakpoint on chromosome 9 is within an intron of the ABL oncogene. The translocation joins most of the ABL genomic sequence onto a gene called BCR (breakpoint cluster region) on chromosome 22, creating a novel fusion gene. This chimeric gene is expressed to produce a tyrosine This chimeric gene is expressed to produce a tyrosine kinase related to the ABL product but with abnormal transforming properties
40
41 A metaphase cell positive for the bcr/abl rearrangement using FISH
42
43 Burkitt's lymphoma is a childhood tumor common in malarial regions of Central Africa and Papua New Guinea. Mosquitoes and depstein-barr virus are believed to play some part in the etiology, but activation of the MYC oncogene is a central event. A characteristic chromosomal translocation, t(8;14)(q24;q32) is seen in 75~ 85% of patients. Each of fthese translocations ti puts the MYC oncogene close to an immunoglobulin locus, IGH at 14q32. MYC is expressed at an inappropriately high level.
44
45 Pairing at meiosis q23 q21
46 Alternate: 13,21 23*,21* Karyotypes of offspring: 1 46,XX(XY) 1 2 Normal 2 46,XX(XY),t(3;21) (q23;q21) Balanced translocation, phenotypically normal
47 Adjacent 1:3 3,21* 4 3*, Karyotypes yp of offspring: 346,XX(XY), -21, +der(21) (21pter 21q21::3q23 3qter) 446,XX(XY), -3, +der(3) (3pter 3q23::21q21 21qter) unbalanced translocation, abnormal unbalanced translocation, abnormal
48 Adjacent 2: 5 3,3* 6 21,21* 5 6 Karyotypes of offspring: 5 46,XX(XY),, -21, +der(3) (3pter 3q23::21q21 q q 21qter) q ) 6 46,XX(XY), -3, +der(21) (21pter 21q21::3q23 3qter) Both are unbalanced translocation, abnormal
49 Robertsonian translocation Translocations involving the centromeric regions and with both long arms of acrocentric chromosomes. Centric fusion Balanced translocation
50 Robertsonian translocation
51 loss Brief pattern: 45,XX(XY),rob(14;21)(p11;q11) Detailed pattern: 45,XX(XY),rob(14;21)(14qter 14p11::21q11 21qter) loss
52 2012 年 4 月 6 日星期五
53 2012 年 4 月 6 日星期五
54 Karyotypes of offspring: Phenotypes: 1 46, XX(XY) Normal 2 45, XX(XY), rob(14;21) (p11; q11) Balanced translocation 3 46, XX(XY), -14, + rob(14;21) (p11; q11) Down syndrome 4 45, XX(XY), -21 Monosomy , XX(XY), -21, + rob(14;21) (p11; q11) Be similar to trisomy , XX(XY), -14 Monosomy 年 4 月 6 日星期五
55 FISH detection of balanced translocation between chromosomes 11 (yellow) and 16, using a painting probe for chromosome 11. Karyotype is 46,XY,t(11;16)(q24;q23) 2012 年 4 月 6 日星期五
56 FISH detection of a cryptic translocation in a developmentally delayed proband, using specific probes for the telomere of chromosome 3p and chromosome 11q. An unbalanced translocation between 3p and 11q carrying partial trisomy for 3p and partial monosomy for 11q 年 4 月 6 日星期五
57 Inversion, inv Inversions occur when there are two breaks within a single chromosome and the broken segment flips 180 (inverts) and reattaches to form a chromosome that is structurally out-of-sequence of sequence. Paracentric Inversion Pericentric Inversion
58 Paracentric inversion An inversion of a chromosome segment that excludes the centromere.
59 Brief pattern: 46, XX(XY), inv(2)(p13p24) Detailed pattern: 46, XX(XY), inv(2)(pter p24::p13 p24::p13 qter)
60 Pericentric i inversion i An inversion of a chromosome segment that includes the centromere.
61 2 p 1 p13 p3 p13 q31 1 q 2 q31 p13 q Brief pattern: 46, XX(XY), inv(2)(p13q31) Detailed pattern: 46, XX(XY), inv(2)(pter p13::q31 p13::q31 qter)
62 Although an inversion carrier may be completely normal, they are at a slightly increased risk for producing a chromosomally unbalanced embryo. This is because an inverted chromosome has difficulty pairing with it's normal homolog during meiosis, which can result in gametes containing unbalanced derivative chromosomes if an unequal cross-over over event occurs. Inversion loop
63
64
65
66 Dicentric i chromosome, dic A chromosome with two centromeres.
67 Dicentric chromosome, dic dicentric i X Normal X Combined FISH and centromere analysis in a 46,X,idic(X) patient, with a dicentric isochromosome of the X chromosome. BLUE chromosomes stained with DAPI GREEEN functional centromeres, as detected with antibodies against a protein specific for active centromeres/kinetochores. RED X centromeres detected by FISH using a specific alpha satellite probe from the X.
68 Isochromosome, i The two arms of the chromosome are identical to each other.
69
70 46,X, i(xp) 46,X,, i(xp)(pter cen pter) p ) 46,X, i(xq) 46,X, i(xq)(qter cen qter)
71
72 Diandry 23X 69,XXX A condition that one egg fertilized by two sperms. 23X 69,XXY 23X 69,XYY
73 Digyny In meiosis Ⅱof oogenesis, the secondary oocyte, for some unknown reasons, fails to exclude the 2nd polar body. Then fertilization occurs between it and a normal sperm. 23X 23X 69,XXY 23X 23X 69,XXX
74 Endoreplication Chromosomes duplicate twice in a single cell division. i i
75
76 Endomitosis Although chromosomes duplicate once normally in interphase, the nuclear envelope doesn t break up until metaphase, resulting in tetraploid.
77 Meiotic nondisjunction Nondisjunction can occur either in meiosis Ⅰ or in meiosis i Ⅱ. All the gametes will be produced abnormally due to the disjunction in meiosis Ⅰ, Ⅰ namely disjunction of homologous chromosomes. Half of the gametes will be produced abnormally due to the disjunction in meiosis Ⅱ, Ⅱ namely disjunction of sister chromatids
78 Meiotic nondisjunction
79 Nondisjunction in meiosis Ⅰ Nondisjunction in meiosis Ⅱ
80 Mitotic nondisjunction The types of the cell lines in mosaicism and their proportions are related to the time of disjunction in mitosis and viabilities of them. The earlier disjunction occurs, the more abnormalities are. The later disjunction occurs, the less abnormalities are. Vi bilit f h di l id i t Viability of hyperdiploid is stronger; Viability of hypodiploid is poorer.
81 /45 or 47 46/47/45 or 46/47 Nondisjunction in 1st segmentation Nondisjunction in 2nd segmentation
82 Loss of chromosomes During mitosis, some chromosome cannot move normally to any pole of the cell because of not attaching to microtubules of the mitotic spindle or delayed movement resulting in loss or being digested.
83 46 loss e.g. 46,XY/45,X
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