A rare case of mixed gonadal dysgenesis: 45, X0/ 46, X, +mar 1/ 46, X, +mar 2

A rare case of mixed gonadal dysgenesis: 45, X0/ 46, X, +mar 1/ 46, X, +mar 2

This study aims to report a rare case of mixed gonadal dysgenesis with mosaicism pattern 45 X0 / 46, X, +mar 1/ 46, X, +mar 2. Patient referred to the pediatric urology service with 2 months of age. Right after the baby was born it was not possible do determine the baby's gender. The karyotype...

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Bibliographic Details
Main Authors: Carolina Talini, Letícia Alves Antunes, Bruna Cecília Neves de Carvalho, Taís Soares de Carvalho, Anne Twadowsky Didonato, Veruska Peron, Karin Lucilda Schultz, Maria Helena Camargo Peralta del Valle
Format: Article
Language:English
Published: Ped Urol Case Rep 2016-07-01
Series:Pediatric Urology Case Reports
Subjects:
Mixed gonadal dysgenesis
ambiguous genitalia
mosaicism; mar+2
Online Access:http://pediatricurologycasereports.com/ojs/index.php/pucr/article/view/168/91

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http://pediatricurologycasereports.com/ojs/index.php/pucr/article/view/168/91

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