Title

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.

Document Type

Article

Publication Date

9-2018

Identifier

DOI: 10.1002/ajmg.a.40428

Abstract

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. G-banded chromosomes and microarray analysis were normal for all three patients. One patient had microphallus, hypospadias, bifid scrotum, exstrophic perineal tissue identified as a rectal duplication, lumbar vertebral anomalies, scoliosis, and a dysmorphic sacrum. The other two patients had isolated epispadias with the urethral meatus close to the penopubic junction. All three had bilateral palpable gonads in the scrotum. While this is the first report of mosaic SRY deletions, mosaic SRY sequence variants have been described in patients with variable genitourinary anomalies. This study identifies FISH analysis as a reliable method for mosaic SRY deletion detection. We suggest SRY FISH analysis should be used in the clinical workup of patients with genitourinary ambiguity.

Journal Title

American journal of medical genetics. Part A

Volume

176

Issue

9

First Page

2017

Last Page

2023

MeSH Keywords

Chromosome Banding; Female; Gene Deletion; Genetic Association Studies; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotype; Male; Phenotype; Sex-Determining Region Y Protein; Urogenital Abnormalities

Keywords

SRY; FISH; ambiguous genitalia; mosaicism

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