Congenital human syndrome

Reference no: EM13194725

Campomelic dysplasia (CMD1) is a congenital human syndrome, featuring malformation of bone and cartilage. It is caused by an autosomal dominant mutation of a gene located on chromosome 17. Consider the following observations in sequence, and in each case, draw whatever appropriate conclusions are warranted.

a. Of those with the syndrome who are karyotypically 46, XY, approximately 75% are sex reversed, exhibiting a wide range of female characteristics

Reference no: EM13194725

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