Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23
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DOI：
10.1002/ajmg.a.31094
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发表时间：
2006-02-15
影响因子：
2
通讯作者：
Matsumoto, N
中科院分区：
文献类型：
--
作者：
Kawara, H;Yamamoto, T;Matsumoto, N
本文报告一例2岁男童，临床表现为单体9P综合征和棕色头发。G显带和染色体FISH研究显示复杂的重排涉及2号和9号染色体上的7个断裂点，其中包括gp22.2-p23处的6.6-Mb缺失。这与文献中以前的研究一起，将综合征的最短重叠区域(SRO)缩小到4.7Mb间隔。讨论了三角头畸形、智力低下和棕色头发的候选基因。(C)2006年Wiley-Liss，Inc.
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.