半椎体的产前诊断——与7号染色体长臂缺失的可能关联。

Prenatal diagnosis of hemivertebrae--A likely association with 7q deletion.

作者信息

Song Yan-Qin, Chen Min, Yang Zhen-Ling, He Wen-Yin, Liu Wei-Qiang, Li Ying, Gong Ya-Fei, Wang Jia-Yan, Sun Xiao-Fang, Chen Xin-Jie

机构信息

Key Laboratory of Reproductive Medicine of Guangdong Province, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.

Shenzhen Bao'an District Songgang People's Hospital, Shenzhen, Guangdong, China.

出版信息

Taiwan J Obstet Gynecol. 2016 Feb;55(1):112-6. doi: 10.1016/j.tjog.2015.05.004.

DOI:10.1016/j.tjog.2015.05.004

PMID:26927261

Abstract

OBJECTIVE

This study aims to investigate the possible cause of a prenatal case of hemivertebrae with a 7q terminal deletion.

CASE REPORT

This case describes a fetus with hemivertebrae in thoracic vertebrae as the sole antenatal sonographic finding. Genetic testing was performed in order to find more information after the abnormal ultrasound finding. The array-based comparative genomic hybridization results showed that the fetus had approximately 6.4 Mb deletion of 7q36. We discussed the two genes (SHH and HLXB9) that may be associated with hemivertebrae in the deletion region and reviewed several literatures about 7q36 deletion.

CONCLUSION

Our results suggest that the phenotype of hemivertebra in our case may be related to the deletion of 7q36.

摘要

目的

本研究旨在调查一例产前诊断为半椎体且伴有7号染色体长臂末端缺失病例的可能病因。

病例报告

本病例描述了一名胎儿，产前超声检查仅发现胸椎半椎体。超声检查异常后进行了基因检测以获取更多信息。基于微阵列的比较基因组杂交结果显示，该胎儿7号染色体长臂36区存在约6.4 Mb的缺失。我们讨论了缺失区域内可能与半椎体相关的两个基因（SHH和HLXB9），并查阅了几篇关于7号染色体长臂36区缺失的文献。