Abnormal Meiosis: Nondisjunction. Disorders Caused by Nondisjunction of Autosomal Chromosomes: There...
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Transcript of Abnormal Meiosis: Nondisjunction. Disorders Caused by Nondisjunction of Autosomal Chromosomes: There...
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Abnormal Meiosis: Nondisjunction
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Disorders Caused by Nondisjunction of Autosomal Chromosomes:
There only 3 autosomal 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.
There are no instances of autosomal monosomies surviving after birth.
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Down Syndrome (trisomy 21): 47, XX, +21 or 47, XY, +21
The result of an extra copy of chromosome 21. Down syndrome alters the child's physical appearance either moderately or severely.
- characteristic facial features, short stature; heart defects, shorter lifespan
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- often sexually underdeveloped and sterile, usually some degree of mental retardation.
- Down Syndrome is correlated with age of mother but can also be the result of nondisjunction of the father's chromosome 21.
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B. Patau syndrome (trisomy 13): 47, XY, +13 or 47,XX, +13 - serious eye, brain, circulatory defects as well as cleft
palate children rarely live more than a few months
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C. Edward's syndrome (trisomy 18): 47, XX, +18 or 47, XY, +18 - almost every organ system affected - children with full Trisomy 18 generally do not live
more than a few months.
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Disorders Caused by Nondisjunction of Sex Chromosomes
Can be fatal, but many people have these karyotypes and are just fine!
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D. Monosomy X (Turner's syndrome): 45, XO- the only viable monosomy in humans - genetically female, however, they do not mature
sexually during puberty and are sterile.- Short stature and normal intelligence. (98% of
these fetuses die before birth)
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E. Klinefelter’s Syndrome: 47, XXY
- genetically male- individuals have male sex organs, but usually small
testes and are sterile- may have breast enlargement and other feminine
body characteristics.- Normal intelligence
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F. Trisomic Females: 47, XXX
healthy and fertile - usually cannot be distinguished from normal female except by karyotype
G. XYY Males: 47, XYY - Individuals are somewhat taller than average and sometimes have below normal intelligence. - Increased amounts of acne- Normal sexual development