title: Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.
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.
authors.affiliation: Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kawara
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009006:Monosomy; D013577:Syndrome