Chromosomal Abnormalities and Karyotypes Creating a Karyotype

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1 Chromosomal Abnormalities and Karyotypes Creating a Karyotype The Normal Human Karyotype The normal human karyotype is composed of SEVEN groups of chromosomes A G plus the sex chromosomes X and Y. The chromosomes are grouped according to size, position of the centromere and the characteristic banding pattern. The first seven groups are called the autosomes while the larger X and smaller Y chromosomes are called the sex chromosomes.

2 Diagnosing a syndrome with karyotypes: Human disorders due to chromosome alterations in autosomes (Chromosomes 1 22). There only 3 trisomies that result in a baby that can survive for a time after birth; the others are too devastating and the baby usually dies in utero. A. Down syndrome (trisomy 21): The result of an extra copy of chromosome 21. B. Patau syndrome (trisomy 13): An extra copy of chromosome 13. C. Edward's syndrome (trisomy 18): an extra copy of chromosome 18.

3 Nondisjunction of the sex chromosomes (X or Y chromosome): Klinefelter syndrome: 47, XXY males. Male sex organs; unusually small testes, sterile. 47, XYY males: Individuals are somewhat taller than average and often have below normal intelligence. Trisomy X: 47, XXX females. Healthy and fertile usually cannot be distinguished from normal female except by karyotype. Monosomy X (Turner's syndrome): The only viable monosomy in humans women with Turner's have only 45 chromosomes. XO individuals are genetically female but do not mature sexually during puberty and are sterile. Short stature and often normal intelligence. Alterations in chromosome structure: Sometimes, chromosomes break, leading to 4 types of changes in chromosome structure: Deletion: a portion of one chromosome is lost during cell division. That chromosome is now missing certain genes. When this chromosome is passed on to offspring the result is usually lethal due to missing genes. Example Cri du chat (cry of the cat): A specific deletion of a small portion of chromosome 5; these children have severe mental retardation, a small head with unusual facial features, and a cry that sounds like a distressed cat. Duplication: if the fragment joins the homologous chromosome, then that region is repeated. Example Fragile X: common form of mental retardation. The X chromosome of some people is unusually fragile at one tip seen "hanging by a thread" under a microscope. Most people have 29 "repeats" at this end of their X chromosome, those with Fragile X have over 700 repeats due to duplications. Translocation: a fragment of a chromosome is moved ("trans located") from one chromosome to another joins a nonhomologous chromosome. The balance of genes is still normal (nothing has been gained or lost) but can alter the body as it places genes in a new environment. Can also cause difficulties in egg or sperm development and normal development of a zygote. Example Acute Myelogenous Leukemia is caused by translocation of part of chromosome 9 onto chromosome 22.

4 Deletion Inversion Translocation Duplication

5 Genetic Conditions - Karyotype Patients Chromosome Makeup Clinical Condition 46 XX Female Normal 46 XY Male Normal 13 Trisomy D1 Syndrome. Multiple congential abnormalities. Fatal by 1 year in most cases. 18 Trisomy E Syndrome. Multiple congenital abnormalities. Fatal by age 3 months in most cases. 21 Trisomy Down Syndrome. Developmental delay and distinct facial characteristics (e.g. skin fold at inner corner of eyes) XXY Klinefelter Syndrome. Male appearance, testes underdeveloped, breasts enlarged. Usually sterile, sometimes developmentally delayed. X0 Turner Syndrome. Female (with only one X) both anatomically and physiologically; rudimentary ovaries, no menstruation or ovulation. XXX, XXXX, XXXXX, XXXY, XXXXY XYY Partial Deletion Short Arm 5 Partial Deletion Long Arm 22 X Long Arm Duplication Mutiple sex chromosomes. Sometimes some mental developmental delay, some degree of anatomical or physiological abnormality. Individuals may be fertile and produce viable offspring. Super Male Syndrome. Often no physical symptoms. Sometimes accelerated growth and increased stature, learning disabilities. Controversial link to criminal and aggressive behaviours. Cri du chat Syndrome. Rounded moon like faces; feeble, plaintive cat like cries. Mental and physical developmental delay. Philadelphia Chromosome. Found in patients with chronic myeloid leukemia. Fragile X Syndrome. Developmental delay. Part of the long arm of the X chromosome appears to be "hanging by a thread".

6 Normal Male Karyotype non-sister chromatids sister chromatids autosomes homologs sex chromosomes

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