Author(s): Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N,
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Abstract 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 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.
This article was published in Am J Med Genet A
and referenced in Biological Systems: Open Access