Paladini D, Pacileo G, Palmieri S, Russo M G, Conti A, Piccola B D, Martinelli P
Department of Gynecology and Obstetrics, University Federico II of Naples, Italy.
Ultrasound Obstet Gynecol. 1998 Jan;11(1):68-70. doi: 10.1046/j.1469-0705.1998.11010068.x.
A case of prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect is described. This type of chromosomal aberration has been shown to be present in up to 30% of isolated conotruncal anomalies and in most cases of DiGeorge and velocardiofacial syndromes. The implications of such a diagnosis on prenatal counselling are discussed.
本文描述了一例患有圆锥动脉干心脏缺陷的胎儿22q11微缺失的产前诊断病例。这种染色体畸变在高达30%的孤立性圆锥动脉干异常病例以及大多数迪格奥尔格综合征和腭心面综合征病例中都有发现。文中讨论了这一诊断对产前咨询的影响。
