6号染色体长臂缺失所致的畸形特征与先天性心脏病：一篇简短报告。
Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report.
作者信息
Nair Sreelata, Varghese Rini, Hashim Sajeed, Scariah Pappachan
机构信息
Department of Fetal Medicine, Lifeline Genetics and Research Centre, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala, India.
出版信息
Indian J Hum Genet. 2012 Jan;18(1):127-9. doi: 10.4103/0971-6866.96682.
In this report, we describe a one and a half year old girl showing terminal deletion of long arm of chromosome 6q. The associated abnormalities such as congenital heart disease, mental retardation, and dysmorphic features are described. Cytogenetic studies with GTG banding showed 46,XX,del(6)(q24→qter). Karyotype of the parents was normal suggesting a denovo event.
在本报告中，我们描述了一名一岁半的女孩，其6号染色体长臂出现末端缺失。文中还描述了相关的异常情况，如先天性心脏病、智力发育迟缓及畸形特征。采用GTG显带技术进行的细胞遗传学研究显示核型为46,XX,del(6)(q24→qter)。父母的核型正常，提示这是一个新发事件。
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