Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2

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• 作者：Paula Sandrin-Garcia ; Dagma V. M. Abramides ; L¨²cia R. Martelli ; Ester S. Ramos ; Ant?nio Richieri-Costa and Geraldo A. S. Passos
• 关键词：Velocardiofacial syndrome ; 22q11.2 deletion ; Microdeletion syndrome ; Genotyping analysis ; Parental analysis
• 刊名：Molecular and Cellular Biochemistry
• 出版年：2007
• 出版时间：September, 2007
• 年：2007
• 卷：303
• 期：1-2
• 页码：9-17
• 全文大小：220 KB

文摘

Velocardiofacial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients present hemizygous deletions on part of chromosome 22q11.2; suggestive that haploinsufficiency in this region is responsible for this etiology. Most 22q11.2 deletions occur sporadically, although in some cases the deletion may be transmitted. A total of 29 VCFS patients and their parents were genotyped using six consecutive polymorphic markers (STS) of the chromosome 22q11.2: D22S420, D22S941, D22S264, D22S306, D22S425, and D22S257. The results revealed that 72 % (21/29) of the patients harbored a deletion involving the polymorphic markers D22S420, D22S941, and/or D22S264. Haplotype analysis showed that among the patients studied, the deletions were either of maternal or paternal origin. Our findings demonstrated that independently of their size, any deletion occurring in the VCFS critical region is enough to confer the patient phenotype.