Article
Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2015
Kamel Alaa K, Abd El-Ghany Hoda M, Mekkawy Mona K, Makhlouf Manal M, Mazen Inas M, El Dessouky Nabil, Mahmoud Wael, Abd El Kader Shereen A
Abstract excerpt
Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was...
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