Patel Z M, Gawde H M, Khatkhatay M I
Genetic Research Center, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India.
J Clin Lab Anal. 2006;20(4):160-3. doi: 10.1002/jcla.20125.
Microdeletion of chromosome 22 is responsible for DiGeorge syndrome, Velo Cardio Facial syndrome, and conotruncal defects. Here, we report on a case of microdeletion 22q11.2 in the heart tissue of a miscarried fetus in a family whose two children had died due to complex congenital heart disease. Fluorescence in situ hybridization (FISH) analysis in the couple revealed that the mother was mosaic for microdeletion of chromosome 22q11.2 in 10% of her peripheral lymphocytes. Prenatal diagnosis was offered to her in her third pregnancy. On routine ultrasonography at 10 weeks, the overall view of the heart was normal. However, before any further tests could be performed, she miscarried at 16 weeks. FISH studies on the heart tissue of the abortus revealed 22q11.2 microdeletion with two different cell lines. This suggests the importance of performing FISH studies when there is a history of congenital heart disease, even though ultrasonography shows a normal view of the heart.
22号染色体微缺失是导致迪格奥尔格综合征、心脏颜面综合征和圆锥动脉干畸形的原因。在此，我们报告了一个家庭中一名流产胎儿心脏组织存在22q11.2微缺失的病例，该家庭的两个孩子因复杂先天性心脏病死亡。对这对夫妇进行的荧光原位杂交（FISH）分析显示，母亲外周血淋巴细胞中有10%为22q11.2染色体微缺失的嵌合体。她第三次怀孕时接受了产前诊断。孕10周常规超声检查时，心脏整体外观正常。然而，在能够进行进一步检查之前，她在孕16周时流产。对流产胎儿心脏组织进行的FISH研究显示存在两种不同细胞系的22q11.2微缺失。这表明，即使超声检查显示心脏外观正常，但当有先天性心脏病病史时，进行FISH研究具有重要意义。
