Aneuploidy Flashcards
1
Q
Clinical presentation of Down Syndrome
A
Hypotonia, short stature, loose skin on nape, palmar crease, clinodactyly
2
Q
Clinical presentation of Edwards Syndrome
A
Hypertonia, prenatal growth deficiency, characteristic fist clench, rocker-bottom feet
3
Q
Clinical presentation of Patau Syndrome
A
Microcephaly, sloping forehead, characteristic fist clench, rocker-bottom feet, polydactyly
4
Q
Other common features of Down Syndrome
A
Congenital heart disease, duodenal atresia, risk for leukemia, risk for premature dementia
5
Q
Other common features of Edwards syndrome
A
Severe heart malformations, feeding difficulties
6
Q
Other common features of Patau syndrome
A
Congenital heart defects
7
Q
A short arm deletion of chromosome 5 results in what syndrome
A
Cri di chat syndrome
