DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME
DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME
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DOI：
10.1002/ajmg.1320440237
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发表时间：
1992-09-15
期刊：
影响因子：
--
通讯作者：
EMANUEL, BS
中科院分区：
文献类型：
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作者：
DRISCOLL, DA;SPINNER, NB;EMANUEL, BS
Velo-cardio-facial syndrome（VCFS）是一种常染色体显性遗传疾病，以腭裂、心脏缺陷、学习障碍和典型的面部外观为特征。不太常见的是，VCFS患者有DiGeorge综合征（DGC）的表现，包括低钙血症，淋巴组织发育不良或缺失和T细胞缺乏，表明这两种疾病有共同的发病机制。在这里，我们报告了15例VCFS患者的细胞遗传学和分子生物学研究结果。高分辨显带技术在3例患者中检测到22q11.21-q11.23间质缺失。其余12例患者的染色体明显正常。分子分析与探针从DiGeorge染色体区域（DGCR）内22 q11检测DNA缺失的15例患者中的14例。在2个家系中，在患病的父母以及先证者中检测到缺失，这表明VCFS的常染色体显性遗传是由于缺失的分离。先前显示在DGC患者中缺失的相同位点的缺失解释了VCFS和DGC的重叠表型，并支持这两种疾病的原因是相同的假设。
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.