期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 4, 页码 373-377出版社
WILEY
DOI: 10.1002/ajmg.a.31094
关键词
monosomy 9p syndrome; shortest region of overlap; trigonocephaly; mental retardation; brown hair
A 2-year-old boy with clinical manifestations of monosomy 9p syndrome and brown hair is described. G-banding and chromosome FISH studies demonstrated complex rearrangemerits involving seven breakpoints in chromosomes 2 and 9, which included a 6.6-Mb deletion at gp22.2-p23. This, together with previous studies in the literature, narrowed the shortest region of overlap (SRO) for the syndrome to a 4.7-Mb interval. Candidate genes for trigonocephaly, mental retardation, and brown hair are discussed. (c) 2006 Wiley-Liss, Inc.
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