A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.
Patients with 9q34.3 terminal deletion usually show a clinically recognizable phenotype characterized by specific facial features (microcephaly, flat face, arched eyebrows, hypertelorism, short nose, anteverted nostrils, carp mouth and protruding tongue) in combination with severe mental retardation, hypotonia, and other anomalies. We analyzed six unrelated patients with a various 9q34.3 terminal deletion. While having different-sized 9q34.3 deletions, all of these patients shared several distinctive anomalies. These anomalies are likely to arise from a commonly deleted region at distal 9q34.3. Fluorescence in situ hybridization (FISH) analysis using a dozen BAC clones mapped at the 9q34.13-q34.3 region defined the shortest region of deletion overlap (SRO) as a 1-Mb segment proximal to 9qter containing eight known genes. Possible candidate genes delineating specific phenotypes of the 9q34.3 terminal deletion syndrome are discussed.
Harada
Naoki
N
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|CREST, Japan Science and Technology Agency, Kawaguchi, Japan.|Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
Visser
Remco
R
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.|International Consortium for Medical Care of Hibakusha and Radiation Life Science, The 21st Century COE (Center of Excellence), Nagasaki, Japan.
Dawson
Angie
A
Department of Pediatrics and Child Health, University of Manitoba, Manitoba, Canada.
Fukamachi
Makoto
M
Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Iwakoshi
Mie
M
Nishinomiya Municipal Wakaba-en, Nishinomiya, Japan.
Okamoto
Nobuhiko
N
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Kishino
Tatsuya
T
CREST, Japan Science and Technology Agency, Kawaguchi, Japan.|Gene Research Center, Nagasaki University, Nagasaki, Japan.
Niikawa
Norio
N
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|CREST, Japan Science and Technology Agency, Kawaguchi, Japan.
Matsumoto
Naomichi
N
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. naomat@yokohama-cu.ac.jp.|CREST, Japan Science and Technology Agency, Kawaguchi, Japan. naomat@yokohama-cu.ac.jp.|Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan. naomat@yokohama-cu.ac.jp.
D002503:Centromere / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013577:Syndrome; D016615:Telomere / Q000235:genetics