期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 12, 页码 1305-1311出版社
WILEY
DOI: 10.1002/ajmg.a.31259
关键词
periventricular nodular heterotopia; Williams syndrome; cortical malformation
资金
- NIMH NIH HHS [1K08MH/NS63886, K08 MH063886, 1K01MH71801-01A1, K01 MH071801-05, K01 MH071801] Funding Source: Medline
- NINDS NIH HHS [R37 NS35129] Funding Source: Medline
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. (c) 2006 Wiley-Liss, Inc.
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