Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome

被引：7

作者：

Huang, Lv-Yin ^{[1
]}

Yang, Yu ^{[2
]}

He, Ping ^{[2
]}

Li, Dong-Zhi ^{[1
]}

机构：

[1] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Children Med Ctr, Guangzhou, Guangdong, Peoples R China

[2] Guangzhou Med Univ, Dept Obstet & Gynecol, Guangzhou Women & Children Med Ctr, Guangzhou, Guangdong, Peoples R China

来源：

JOURNAL OF OBSTETRICS AND GYNAECOLOGY | 2017年 / 37卷 / 03期

关键词：

9q34.3; deletion; prenatal diagnosis; chromosome rearrangement; chromosomal microarray analysis; PRENATAL-DIAGNOSIS; DELETION; FETUS; THICKNESS; FEATURES; PATIENT;

D O I：

10.1080/01443615.2016.1245278

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype.

引用

页码：327 / 329

页数：3