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Record 1Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne LR; Digilio MC; Giannotti A; Dallapiccola B Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Italy. Journal of medical genetics (ENGLAND) Jun 1999, 36 (6) p478-80, ISSN 0022-2593 Languages: ENGLISH Document type: JOURNAL ARTICLE
We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.
Record 2Williams-Beuren syndrome: genes and mechanisms. Francke U Howard Hughes Medical Institute and Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5323, USA. [email protected] Human molecular genetics (ENGLAND) 1999, 8 (10) p1947-54, ISSN 0964-6906 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype. (75 Refs.)
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