Aneuploid Syndromes Flashcards
Intellectual disability in trisomy 13
Severe
5 clinical features of trisomy 18
Clenched hands Crossed legs Rocker bottom feet Microceaphaly Micrognathia
Intellectual disability in trisomy 18
Severe
5 clinical features of trisomy 21
Hypotonia Large tongue protruding from small mouth Flattened nose Upward slanting eyes Single crease in palm of hand
Intellectual disability in trisomy 21
Mild to moderate (IQ about 50 compared to 100)
Delayed development of speech/language
5 clinical features of Turner’s syndrome
Short stature Short, webbed neck Low hairline in back Low set ears Infertile
Intellectual disability in Turner’s syndrome
Intelligence in normal range
Difficulty with spatial-visual problems
Difficulty learning math
5 clinical features of Klinefelter syndrome
Tall statue Smaller testes and penis Infertile Breast grow Less facial/body hair
Intellectual disability in Klinefelter syndrome
Intelligence in normal range
Increased risk for learning disability
Delayed language development
3 clinical features of 47, XXX
Taller than average
Hypotonia
Hypertelorism
Intellectual disability in 47, XXX
Intelligence in normal range
Increased risk for learning disability
Delayed speech and language development
4 clinical features of 47, XYY
Taller than average
Hypotonia
Hand tremors, involuntary movements
Severe acne
Intellectual disability in 47, XYY
Intelligence in normal range (but less than sibs)
Increased chance for learning disabilties
5 clinical features of trisomy 13
Midline cleft lip and palate Polydactyly Holoprosencephaly Cutis aplasia Microcephaly
