Genetics Flashcards
1
Q
Trisomy 21 (down syndrome): Physical Findings
A
Microcephaly, Flat nose, protruding tongue, single palmer crease, hypotonia
2
Q
Hypertelorism
A
Wide set eyes (Down Syndrome)
3
Q
Brushfield spots
A
White lines in iris (Down Syndrome)
4
Q
Klinefelter’s Syndrome
A
XXY; only in males, presents in puberty (don’t develop secondary sex characteristics; infertility, tall stature)
5
Q
Turner’s Syndrome
A
Females, webbed neck, lymphedema, low hairline, shield chest, heart abnormalities
6
Q
Marfan Syndrome
A
Connective tissue, tall stature, thin extremities, heart abnormalities
7
Q
Tay-Sachs Disease
A
Ashkenazic Jewish Population, decreased muscle tone
8
Q
DiGeorge
A
Parathyroid, thymus, conotruncal region defects, heart defects, hypoparathyroidism= hypocalcemia,
