Cryptorchidism due to chromosome 5q inversion duplication.

نویسندگان

  • M K Dutta
  • A Gundgurthi
  • M K Garg
  • R Pakhetr
چکیده

We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.

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عنوان ژورنال:
  • The Journal of the Association of Physicians of India

دوره 61 12  شماره 

صفحات  -

تاریخ انتشار 2013