Format

Send to

Choose Destination
J Hum Genet. 2004;49(8):440-444. doi: 10.1007/s10038-004-0166-z. Epub 2004 Jul 16.

A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.

Author information

1
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
2
CREST, Japan Science and Technology Agency, Kawaguchi, Japan.
3
Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
4
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
5
International Consortium for Medical Care of Hibakusha and Radiation Life Science, The 21st Century COE (Center of Excellence), Nagasaki, Japan.
6
Department of Pediatrics and Child Health, University of Manitoba, Manitoba, Canada.
7
Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
8
Nishinomiya Municipal Wakaba-en, Nishinomiya, Japan.
9
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
10
Gene Research Center, Nagasaki University, Nagasaki, Japan.
11
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. naomat@yokohama-cu.ac.jp.
12
CREST, Japan Science and Technology Agency, Kawaguchi, Japan. naomat@yokohama-cu.ac.jp.
13
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.

Abstract

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.

PMID:
15258833
DOI:
10.1007/s10038-004-0166-z
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center