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In this study, we report mosaic <jats:italic>SRY<\/jats:italic> gene deletion identified by fluorescence in situ hybridization (FISH) analysis in three unrelated newborn male patients with genital anomalies. G\u2010banded 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 <jats:italic>SRY<\/jats:italic> deletions, mosaic <jats:italic>SRY<\/jats:italic> sequence variants have been described in patients with variable genitourinary anomalies. This study identifies FISH analysis as a reliable method for mosaic <jats:italic>SRY<\/jats:italic> deletion detection. We suggest <jats:italic>SRY<\/jats:italic> FISH analysis should be used in the clinical workup of patients with genitourinary ambiguity.<\/jats:p>","DOI":"10.1002\/ajmg.a.40428","type":"journal-article","created":{"date-parts":[[2018,7,29]],"date-time":"2018-07-29T07:28:15Z","timestamp":1532849295000},"page":"2017-2023","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel mosaic <i>SRY<\/i> gene deletions in three newborn males with variable genitourinary malformations"],"prefix":"10.1002","volume":"176","author":[{"given":"Jennifer","family":"Roberts","sequence":"first","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine, Division of Clinical Laboratory Genetics &amp; Genomics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry","family":"Lyalin","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine, Division of Clinical Laboratory Genetics &amp; Genomics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norwood","family":"Tosatto","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine, Division of Clinical Laboratory Genetics &amp; Genomics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratibha","family":"Rana","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"},{"name":"Children's Mercy Hospital The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiba","family":"Fadoul","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"},{"name":"Children's Mercy Hospital The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holly","family":"Welsh","sequence":"additional","affiliation":[{"name":"Children's Mercy Hospital The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"},{"name":"Division of Clinical Genetics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine, Division of Clinical Laboratory Genetics &amp; Genomics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"},{"name":"Children's Mercy Hospital The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Cooley","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine, Division of Clinical Laboratory Genetics &amp; Genomics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"},{"name":"Children's Mercy Hospital The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8797-5227","authenticated-orcid":false,"given":"Elena","family":"Repnikova","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine, Division of Clinical Laboratory Genetics &amp; Genomics The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"},{"name":"Children's Mercy Hospital The University of Missouri\u2010Kansas City School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33091"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31539"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-9926(200102)63:2<94::AID-TERA1015>3.0.CO;2-A"},{"issue":"4","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1007\/BF02267082","article-title":"A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis","volume":"97","author":"Bilbao J. 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