Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and cartilage.It is caused by an autosomal dominant mutation of agene located on chromosome 17. Consider the followingobservations in sequence, and in each case, draw whateverappropriate conclusions are warranted.(a) Of those with the syndrome who are karyotypically46,XY, approximately 75 percent are sex reversed,exhibiting a wide range of female characteristics.(b) The nonmutant form of the gene, called SOX9, isexpressed in the developing gonad of the XY male,but not the XX female.(c) The SOX9 gene shares 71 percent amino acid codingsequence homology with the Y-linked SRY gene.(d) CMD1 patients who exhibit a 46,XX karyotypedevelop as females, with no gonadal abnormalities.

Campomelic dysplasia (CMD1) is a congenital humansyndrome featuring malformation of bone and cartilage.It is caused by an autosomal dominant mutation of agene located on chromosome 17. Consider the followingobservations in sequence, and in each case, draw whateverappropriate conclusions are warranted.(a) Of those with the syndrome who are karyotypically46,XY, approximately 75 percent are sex reversed,exhibiting a wide range of female characteristics.(b) The nonmutant form of the gene, called SOX9, isexpressed in the developing gonad of the XY male,but not the XX female.(c) The SOX9 gene shares 71 percent amino acid codingsequence homology with the Y-linked SRY gene.(d) CMD1 patients who exhibit a 46,XX karyotypedevelop as females, with no gonadal abnormalities.

Biology Today and Tomorrow without Physiology (MindTap Course List)

5th Edition

ISBN:9781305117396

Author:Cecie Starr, Christine Evers, Lisa Starr

Publisher:Cecie Starr, Christine Evers, Lisa Starr

Chapter9: Patterns Of Inheritance

Section: Chapter Questions

Problem 4CT

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