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Am J Med Genet A. 2006 Jun 15;140(12):1305-11.

Periventricular nodular heterotopia and Williams syndrome.

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1
Department of Biology, Rensselaer Polytechnic Institute, Center for Biotechnology and Interdisciplinary Studies, Troy, New York, USA.

Abstract

We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23.

PMID:
16691586
DOI:
10.1002/ajmg.a.31259
[Indexed for MEDLINE]
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