Chapter·Internal MedicineGenetics and Disease

Chromosomal DisordersDownloads

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Sample Questions

1

All the following are characteristic features of Turner syndrome except:

ACubitus valgus

BWebbing of Neck

CUmbilical Hernia

DCoarctation of Aorta

EShort stature

2

All of the following are true about Down syndrome except for one.

AIncidence of Robertsonian translocation is 1:1000

BMost common cause is trisomy 21

CMosaicism 21 has no association with maternal age

DExtra chromosome is of maternal origin

EIncidence increases with advanced maternal age

3

What is the name of the syndrome associated with the deletion of chromosome 22?

ADown syndrome

BDi George syndrome

CTurner syndrome

DKlinefelter syndrome

EPrader-Willi syndrome

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