Article
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.
American journal of medical genetics. Part A - 1 Sept 2018
Roberts Jennifer, Lyalin Dmitry, Tosatto Norwood, Rana Pratibha, Fadoul Hiba, Welsh Holly, Zhang Lei, Cooley Linda, Repnikova Elena
Abstract excerpt
Ambiguous genitalia in the newborn can present a diagnostic challenge in medical practice. In most cases, the causes of genitourinary anomalies are not well understood; both genetic and environmental factors are thought to play a role. In this study, we report mosaic SRY gene deletion identified by fluorescence in situ hybridization (FISH) analysis in three unrelated newborn male patients with genital anomalies....
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