在印度北部的一家转诊医院，146 名心脏畸形患者中 22q11.2 微缺失的发生率。
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.
机构信息
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India.
出版信息
BMC Med Genet. 2010 Jun 23;11:101. doi: 10.1186/1471-2350-11-101.
BACKGROUND
The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion.
METHODS
A total of 146 cases of cardiac malformation requiring tertiary care at a teaching hospital were prospectively screened for 22q11.2 microdeletion using fluorescence in situ hybridization test. Detailed clinical information was obtained as per guidelines of Tobias, et al (1999).
RESULTS
Nine out of 146 patients (6.16%) was found to have 22q11.2 microdeletion. All the positive patients showed the presence of extra-cardiac features of 22q11.2 microdeletion syndrome. None of the cases with isolated cardiac defect were positive for microdeletion.
CONCLUSIONS
It seems that 22q11.2 microdeletion syndrome is over-suspected in children with isolated congenital heart defects. Screening for 22q11.2 microdeletion should be considered in those cardiac malformation cases which have extra-cardiac manifestations in the form of facial dysmorphism and hypocalcaemia.
背景
22q11.2 微缺失综合征是一种常见病症，与心脏以及心脏外表现相关。其在印度北部的流行情况和表现尚未有报道。本研究旨在确定 22q11.2 微缺失的流行情况和临床标准的预测能力。
方法
在一家教学医院，共有 146 例需要三级护理的心脏畸形患者，前瞻性地使用荧光原位杂交试验对 22q11.2 微缺失进行筛查。按照 Tobias 等人（1999 年）的指南，获得详细的临床信息。
结果
在 146 例患者中，有 9 例（6.16%）被发现存在 22q11.2 微缺失。所有阳性患者均表现出 22q11.2 微缺失综合征的心脏外特征。没有一例单纯心脏缺陷的病例对微缺失呈阳性。
结论
在患有单纯先天性心脏病的儿童中，似乎过度怀疑存在 22q11.2 微缺失综合征。对于具有面部畸形和低钙血症等心脏外表现的心脏畸形病例，应考虑进行 22q11.2 微缺失筛查。
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