A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
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在一个患有复发性胎儿圆锥干缺陷的中国家庭中发现了罕见的马赛克 22q11.2 微缺失
DOI：
10.1002/mgg3.847
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发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Huang G
中科院分区：
文献类型：
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作者：
Chen W;Li X;Sun L;Sheng W;Huang G
背景22q11缺失综合征（22qDS）是由染色体22q11.2区域缺失引起的。方法采用染色体微阵列分析（CMA）和荧光原位杂交（FISH）技术，对22q11.2缺失综合征（22q11.2DS）患者的染色体拷贝数进行分析。对该家系中的携带者进行了与22q11.2DS相关的临床检查。Results1例健康女性，该家系有两次圆锥动脉干缺陷妊娠史，一次为肺动脉闭锁（PA），另一次为法洛四联症（TOF）。CMA显示TOF胎儿存在22q11.2微缺失，间期FISH进一步证实其母亲存在22q11.2微缺失的体细胞嵌合体。在中期淋巴细胞中验证了母体中的体细胞嵌合体22q11.2缺失。22q11.2DS相关的临床检查显示母亲有低钙血症和低百分比的CD4 + T辅助细胞。复发性胎儿圆锥动脉干缺陷的家族史和遗传学结果表明，22q11.2 microdeletion.ConclusionOur报告的母系生殖系嵌合体的遗传可能性是第一个在中国家庭的情况下，目前，体细胞和可疑的性腺嵌合体的22q11.2 microdeletion.We的女性导致复发性胎儿圆锥动脉干缺陷。
Background22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported.MethodsChromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridization (FISH) were performed to analyze the copy number alterations. Clinical examinations related to 22q11.2DS were performed on the carrier in this family.ResultsA healthy female in a Chinese family with a history of two pregnancies with conotruncal defects, one with pulmonary atresia (PA) and another with Tetralogy of Fallot (TOF) was recruited in this study. CMA revealed that the fetus with TOF has a microdeletion on the 22q11.2 locus, and his mother was further confirmed a somatic mosaicism of 22q11.2 microdeletion by interphase FISH. Somatic mosaic 22q11.2 deletion in the mother was validated in the metaphase lymphocytes. Clinical examinations related to 22q11.2DS showed that the mother had hypocalcemia and low percentages of CD4 + T helper cells. The family history of recurrent fetal conotruncal defects and genetic results demonstrated the inherited possibility of maternal germline mosaicism of the 22q11.2 microdeletion.ConclusionOur report was the first case in a Chinese family to present that a somatic and suspected gonadal mosaicism of the 22q11.2 microdeletion in female causes recurrent fetal conotruncal defects.