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8 Cards in this Set
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Trisomy 13
Patau Syndrome males more affected than females nondisjunction is maternal (meiosis I) |
47, XX+13
third most common trisomy Holoprosencephaly=left and right side of brain don't communicate Dextrocardia=heart on right instead of left Simian crease low-set ears, abnormal shaped ears polydactyly Doesn't usually live past one month |
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Trisomy 18
Edward's syndrome females more affected than males nondisjunction is maternal (meiosis II) |
47, XY+18
arthrogryposis=joint contractures spina bifida "trigger finger"/clenched fist rocker bottom feet micrognathia=small chest, low-set ears most die by age one |
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Trisomy 21
Down Syndrome |
47, XY+21
most common trisomy compatible with live birth most functional DS inviduals are mosaic Epicanthal folds Brushfield spots in eyes single palmar crease (simian crease) greater risk of leukemia |
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Klinefelter syndrome
usually from maternal nondisjunction |
most common cause of male hypogonadism
47,XXY Puberty may be delayed taller than normal gynecomastia: may have same risk for breast cancer as women infertile |
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Turner syndrome
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45.X
normal intelligence webbed neck (due to cystic hygroma) short stature shield-like chest lack of ovarian development need to karyotype--to rule out mosaicism, and presence of any Y will increase cancer risk to 95% remove gonadal tissue=remove cancer risk |
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Uniparental disomy
cell's attempt to correct trisomy |
examples : prader willi syndrome and angelman syndrome
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Prader Willi syndrome
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chromosome 15q 11-15
paternal chromosome deletion-UBE3A short obese, poor growth eat everything |
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Angelman syndrome
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chromosome 15q 11-15
maternal chromosome deletion-SNRPN happy puppet syndrome poor motor control |
