Driscoll D A, Spinner N B, Budarf M L, McDonald-McGinn D M, Zackai E H, Goldberg R B, Shprintzen R J, Saal H M, Zonana J, Jones M C
Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia.
Am J Med Genet. 1992 Sep 15;44(2):261-8. doi: 10.1002/ajmg.1320440237.
Velo-cardio-facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T-cell deficiency suggesting that these 2 conditions share a common pathogenesis. Here, we report the results of cytogenetic and molecular studies of 15 VCFS patients. High-resolution banding techniques detected an interstitial deletion of 22q11.21-q11.23 in 3 patients. The remaining 12 patients had apparently normal chromosomes. Molecular analysis with probes from the DiGeorge Chromosome Region (DGCR) within 22q11 detected DNA deletions in 14 of 15 patients. In 2 families, deletions were detected in the affected parent as well as the propositus suggesting that the autosomal dominant transmission of VCFS is due to segregation of a deletion. Deletions of the same loci previously shown to be deleted in patients with DGC explains the overlapping phenotype of VCFS and the DGC and supports the hypothesis that the cause of these two disorders is the same.
腭心面综合征（VCFS）是一种常染色体显性疾病，其特征为腭裂、心脏缺陷、学习障碍以及典型的面部外观。较少见的是，VCFS患者会出现迪格奥尔格综合征（DGC）的表现，包括低钙血症、淋巴组织发育不全或缺失以及T细胞缺乏，这表明这两种病症有着共同的发病机制。在此，我们报告了对15例VCFS患者进行细胞遗传学和分子研究的结果。高分辨率显带技术在3例患者中检测到22q11.21 - q11.23的间质缺失。其余12例患者的染色体显然正常。使用来自22q11内迪格奥尔格染色体区域（DGCR）的探针进行分子分析，在15例患者中的14例检测到DNA缺失。在2个家族中，在患病的父母以及先证者中均检测到缺失，这表明VCFS的常染色体显性遗传是由于缺失的分离所致。先前在DGC患者中已显示被缺失的相同基因座的缺失，解释了VCFS和DGC的重叠表型，并支持这两种疾病病因相同的假说。
