Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.
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.
Kawara
Hiroki
H
Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
Yamamoto
Toshiyuki
T
Harada
Naoki
N
Yoshiura
Koh-ichiro
K
Niikawa
Norio
N
Nishimura
Akira
A
Mizuguchi
Takeshi
T
Matsumoto
Naomichi
N
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