期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 128A, 期 4, 页码 340-351出版社
WILEY
DOI: 10.1002/ajmg.a.30136
关键词
chromosome 9; subtelomeric deletion; syndrome
资金
- NHLBI NIH HHS [P50HL074731] Funding Source: Medline
- NIDDK NIH HHS [1R01 DK53104] Funding Source: Medline
- NIGMS NIH HHS [5-T32-GM08638-05] Funding Source: Medline
Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal causes of mental retardation with and without dysmorphic features. This article reports the phenotypic and molecular breakpoint characterization in a cohort of 12 patients with subtelomeric deletions of chromosome 9q34. The phenotypic findings are consistent amongst these individuals and consist of mental retardation, distinct facial features and congenital heart defects (primarily conotruncal defects). Detailed breakpoint mapping by FISH, microsatellite and single nucleotide polymorphism (SNP) genotyping analysis has narrowed the commonly deleted region to an approximately 1.2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers 012020842 proximally and 080658 distally suggesting a common breakpoint in this interval. (C) 2004 Wiley-Liss, Inc.
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