Article
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
European journal of pediatrics - 1 Oct 2012
Ocal Gönül, Berberoğlu Merih, Sıklar Zeynep, Ruhi Hatice Ilgın, Tükün Ajlan, Camtosun Emine, Savaş Erdeve Senay, Hacıhamdioğlu Bülent, Fitöz Suat
Abstract excerpt
UNLABELLED: Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/46,XY mosaicism are described including the...
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