q 5

[Anonymous]

Which one of the following chromosomial abnormalities is marked by microphthalmia, microcephaly, brain abnormalities, mental retardation, polydactyly and rocker-bottom feet ?

A- Down syndrome (trisomy 21)
B- Patau syndrome (trisomy 13)
C- Cri du chat (5p-)
D- Edwards syndrome (trisomy 18 )

[Potatooo]

D :wink:

[Anonymous]

its easy to confuse the very similar trisomy 18 (edwards) and 13 (patau's) because they have similar signs. they both r trisomies, have VSDs, severe mental retardation, early death (ed at 1 mo and patau at 6 mo). cleft lip/palate and cystic kidneys seen in patau, while clenched hands with overlapping 2nd and 5th fingers seen in edwards. the rocker bottom feet is more common in edwards, but i think it can be seen in both (please confirm??). but the polydactyl is unique (i think) to patau's syndrome (trisomy 13). the way i remember is that they have "13 fingers".

but i'm not sure. can anyone provide more input. thanks.


ref: kaplan path by goljan pg 122-123

[capricornchick]

I agree with Step 1. Polydactyly is specific for trisomy 13.