PMID- 30055081
OWN - NLM
STAT- MEDLINE
DCOM- 20190911
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 176
IP  - 9
DP  - 2018 Sep
TI  - Novel mosaic SRY gene deletions in three newborn males with variable 
      genitourinary malformations.
PG  - 2017-2023
LID - 10.1002/ajmg.a.40428 [doi]
AB  - 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.
CI  - (c) 2018 Wiley Periodicals, Inc.
FAU - Roberts, Jennifer
AU  - Roberts J
AD  - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory 
      Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, 
      Kansas City, Missouri.
FAU - Lyalin, Dmitry
AU  - Lyalin D
AD  - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory 
      Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, 
      Kansas City, Missouri.
FAU - Tosatto, Norwood
AU  - Tosatto N
AD  - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory 
      Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, 
      Kansas City, Missouri.
FAU - Rana, Pratibha
AU  - Rana P
AD  - Department of Pediatric Endocrinology, The University of Missouri-Kansas City 
      School of Medicine, Kansas City, Missouri.
AD  - Children's Mercy Hospital, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
FAU - Fadoul, Hiba
AU  - Fadoul H
AD  - Department of Pediatric Endocrinology, The University of Missouri-Kansas City 
      School of Medicine, Kansas City, Missouri.
AD  - Children's Mercy Hospital, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
FAU - Welsh, Holly
AU  - Welsh H
AD  - Children's Mercy Hospital, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
AD  - Division of Clinical Genetics, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
FAU - Zhang, Lei
AU  - Zhang L
AD  - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory 
      Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, 
      Kansas City, Missouri.
AD  - Children's Mercy Hospital, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
FAU - Cooley, Linda
AU  - Cooley L
AD  - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory 
      Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, 
      Kansas City, Missouri.
AD  - Children's Mercy Hospital, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
FAU - Repnikova, Elena
AU  - Repnikova E
AUID- ORCID: 0000-0002-8797-5227
AD  - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory 
      Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, 
      Kansas City, Missouri.
AD  - Children's Mercy Hospital, The University of Missouri-Kansas City School of 
      Medicine, Kansas City, Missouri.
LA  - eng
PT  - Journal Article
DEP - 20180728
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - Genitourinary Tract Anomalies
SB  - IM
MH  - Chromosome Banding
MH  - Female
MH  - *Gene Deletion
MH  - *Genetic Association Studies/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Male
MH  - *Phenotype
MH  - Sex-Determining Region Y Protein/*genetics
MH  - Urogenital Abnormalities/*diagnosis/*genetics
OTO - NOTNLM
OT  - SRY
OT  - FISH
OT  - ambiguous genitalia
OT  - mosaicism
EDAT- 2018/07/29 06:00
MHDA- 2019/09/12 06:00
CRDT- 2018/07/29 06:00
PHST- 2017/06/15 00:00 [received]
PHST- 2018/03/29 00:00 [revised]
PHST- 2018/06/10 00:00 [accepted]
PHST- 2018/07/29 06:00 [pubmed]
PHST- 2019/09/12 06:00 [medline]
PHST- 2018/07/29 06:00 [entrez]
AID - 10.1002/ajmg.a.40428 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2018 Sep;176(9):2017-2023. doi: 10.1002/ajmg.a.40428. Epub 2018 
      Jul 28.