VATER/VACTERL association and caudal regression with Xq25-q27.3 microdeletion: A case report

Surasak Puvabanditsin; James Van Gurp; Melissa February; Marwa Khalil; Julia Mayne; Jennifer Ai Mcconnell; Rajeev Mehta

doi:10.3109/15513815.2016.1139019

VATER/VACTERL association and caudal regression with Xq25-q27.3 microdeletion: A case report

Surasak Puvabanditsin
, James Van Gurp
, Melissa February
, Marwa Khalil
, Julia Mayne
, Jennifer Ai Mcconnell
, Rajeev Mehta

School of Medicine

Hackensack Meridian School of Medicine

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.

Original language	English
Pages (from-to)	133-141
Number of pages	9
Journal	Fetal and Pediatric Pathology
Volume	35
Issue number	2
DOIs	https://doi.org/10.3109/15513815.2016.1139019
State	Published - Mar 3 2016

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine

Keywords

VATER/VACTERL association
Xq25-q27.3 deletion
congenital anomalies
neonate

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10.3109/15513815.2016.1139019

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title = "VATER/VACTERL association and caudal regression with Xq25-q27.3 microdeletion: A case report",

abstract = "We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.",

keywords = "VATER/VACTERL association, Xq25-q27.3 deletion, congenital anomalies, neonate",

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T2 - A case report

AU - Puvabanditsin, Surasak

AU - Van Gurp, James

AU - February, Melissa

AU - Khalil, Marwa

AU - Mayne, Julia

AU - Ai Mcconnell, Jennifer

AU - Mehta, Rajeev

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AB - We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.

KW - VATER/VACTERL association

KW - Xq25-q27.3 deletion

KW - congenital anomalies

KW - neonate

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ER -

VATER/VACTERL association and caudal regression with Xq25-q27.3 microdeletion: A case report

Abstract

ASJC Scopus subject areas

Keywords

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