伴有Xq25-q27.3微缺失的VATER/VACTERL协会综合征与尾端退化综合征：一例报告
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report.
作者信息
Puvabanditsin Surasak, Van Gurp James, February Melissa, Khalil Marwa, Mayne Julia, Ai McConnell Jennifer, Mehta Rajeev
机构信息
a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
b Pathology, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
出版信息
Fetal Pediatr Pathol. 2016;35(2):133-41. doi: 10.3109/15513815.2016.1139019. Epub 2016 Feb 16.
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.
我们报告了一名足月儿女新生儿，伴有椎体异常、肛门和尿道闭锁、食管闭锁合并气管食管瘘（TEF）、肾缺如、肺发育不全、生殖器和骶部附件以及单脐动脉。基因研究显示X染色体长臂存在20.91 Mb的间质性缺失：Xq25-q27.3。这是一例伴有Xq25微缺失的VATER/VACTERL综合征新病例。
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