Lupski J R, Langston C, Friedman R, Ledbetter D H, Greenberg F
Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
Am J Med Genet. 1991 Aug 1;40(2):196-8. doi: 10.1002/ajmg.1320400214.
We report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X,-Y,-22,+der-(Y)t(Y;22) (p11.3q11.2) chromosome abnormality with del(22)(q11.2). Parental chromosomes were normal. Autopsy showed persistent truncus arteriosus type II and thymic aplasia consistent with DiGeorge anomaly. This report adds to the existing literature demonstrating an association between DiGeorge anomaly and monosomy 22q11.
我们报告了一名患有先天性心脏病的糖尿病母亲所生婴儿，术前经超声心动图诊断为I型永存动脉干，伴有低钙血症。细胞遗传学分析显示存在45,X,-Y,-22,+der-(Y)t(Y;22) (p11.3q11.2)染色体异常，伴有22号染色体长臂1区2带缺失（del(22)(q11.2)）。父母染色体正常。尸检显示为II型永存动脉干和胸腺发育不全，符合迪格奥尔格综合征。本报告补充了现有文献，证明迪格奥尔格综合征与22q11单体之间存在关联。
