Balci S, Altugan F S, Alehan D, Aypar E, Baltaci V
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Hospital, 06100, Sihhiye, Ankara, Turkey.
Genet Couns. 2009;20(4):373-7.
A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.
产前超声诊断为圆锥动脉干异常合并镶嵌型21三体和22q11.2微缺失/迪格奥尔格综合征：我们报告一例产前超声诊断为圆锥动脉干和泌尿生殖系统异常的病例。出生后，该患者出现癫痫、低钙血症、甲状旁腺功能减退和胸腺发育不全，被诊断为迪格奥尔格综合征。超声心动图显示对位不良型室间隔缺损、肺动脉瓣上狭窄和主动脉骑跨。染色体和荧光原位杂交研究显示为镶嵌型21三体与22q11.2微缺失并存。本患者是第二例合并22q11.2微缺失的镶嵌型唐氏综合征病例。此外，该患者还具有迪格奥尔格综合征的临床和实验室特征。
