XY sex reversal and gonadal dysgenesis due to 9p24 monosomy

doi:10.1002/(sici)1096-8628(19971219)73:3<321::aid-ajmg17>3.0.co;2-l

Article

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy

19 Dec 1997

Abstract excerpt

We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome 9 have been...

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