Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.
Hiroki Kawara, Toshiyuki Yamamoto, Naoki Harada, Koh-ichiro Yoshiura, Norio Niikawa, Akira Nishimura, Takeshi Mizuguchi, Naomichi Matsumoto
Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
American journal of medical genetics. Part A 2006 Feb 15A 2-year-old boy with clinical manifestations of monosomy 9p syndrome and brown hair is described. G-banding and chromosome FISH studies demonstrated complex rearrangements involving seven breakpoints in chromosomes 2 and 9, which included a 6.6-Mb deletion at 9p22.2-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. Copyright (c) 2006 Wiley-Liss, Inc.
Citation
Hiroki Kawara, Toshiyuki Yamamoto, Naoki Harada, Koh-ichiro Yoshiura, Norio Niikawa, Akira Nishimura, Takeshi Mizuguchi, Naomichi Matsumoto. Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. American journal of medical genetics. Part A. 2006 Feb 15;140(4):373-7
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PMID: 16419130
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