A Case of Williams Syndrome with Balanced Translocation t (1; 7) (q43; q31) and Regional Deletion at 7q11.23
スポンサーリンク
概要
- 論文の詳細を見る
This patient was a one-year-old Japanese girl. She had typical WS facial features, supravalvular aortic stenosis, valvular pulmpnary stenosis and peripheral pulmonary stenosis. We confirmed that this patient with WS had hemizygosity for a region of 7q11.23 and a balanced translocation by FISH with a WSCR (williams syndrome chromosome region) probe. The breakpoint[t (1; 7) (q43; q31)]of the balanced translocation was confirmed by banding analysis and FISH with WCP1 SpectrumGreen and WCP7 (Whole Chromosome Paint 7) SpectrumOrange. Chromosome rearrangements such as translocation might have some effect on misaligned recombination as a cause of the deletion since there are duplicated regions before and behind the commonly deleted region and many duplicated regions on chromosome 7.
- 北里大学の論文
- 2002-04-30
著者
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NAKAMURA Makoto
Department of Gastroenterology, Toyokawa City Hospital
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Momma Kazuo
Department Of Pediatric Cardiology The Heart Institute Tokyo Women's Med. Coll.
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Takao Atsuyoshi
Department Of Cardiology Tokyo Women's Medical University
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Nakazawa Makoto
Minami Tohoku Hospital
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Takao Atsuyoshi
Cardiology Tokyo Women's Medical University
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Momma Kazuo
The Heart Institute Of Japan Tokyo Women's Medical College
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Momma Kazuo
Department Of Pediatric Cardiology And Research Division Heart Institute Of Japan Tokyo Women's
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Momma Kazuo
Department Of Pediatric Cardiology
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Matsuoka Rumiko
Department of Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical University
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Matsuoka Rumiko
Division Of Pediatric Cardiology And Ireiims
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Matsuoka Rumiko
The Gene Cardiovascular Disease Epidemiology Committee Of Japanese Pediatric Cardiology And Cardiac
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Matsuoka Rumiko
Department Of Pathology And Laboratory Medicine University Of Wisconsin Clinical Science Center:depa
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Kamimura Junko
Department of Pediatrics, Faculty of Medicine, Kagoshima University
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HIRAI Momoki
Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo
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Kamimura Junko
Department Of Pediatrics National Minami Kyushu Chuo Hospital Kagoshima City
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HIRAISHI SATOSHI
Department of Pediatrics, Kitasato University School of Medicine
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HIROTA HAMAO
Department of Pediatrics, Kitasato University School of Medicine
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Imamura Shin-ichiro
Ireiims Tokyo Women's Medical University
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Kimura Misa
Department of Pediatric Cardiology and Research Division, Heart Institute of Japan, Tokyo Women's Me
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Imamura Shin-ichiro
Department of Pediatric Cardiology and Research Division, Heart Institute of Japan, Tokyo Women's Me
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Imamura Shinichirou
Tokyo Women's Medical College The Heart Institute Of Japan Dept. Of Pediatric Cardiology
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Kimura Misa
Department Of Pediatric Cardiology And Research Division Heart Institute Of Japan Tokyo Women's
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Momma Kazuo
Section Of Pediatrics And Surgery Heart Institute Tokyo Women's Medical College
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Hirota Hamao
Department Of Pediatrics Kitasato University School Of Medicine
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Hirai Momoki
Department Of Biological Sciences Faculty Of Science University Of Tokyo
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Hirai Momoki
Department Of Anthropology The University Of Tokyo
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Mori Kazuhiro
The Heart Institute Japan Tokyo Women's Medical College
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Nakazawa Makoto
Division Of Pediatric Cardiology
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Takao Atsuyoshi
Tokyo Women's Medical College The Heart Institute Of Japan Dept. Of Pediatric Cardiology
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Hiraishi Satoshi
Department Of Pediatrics Kitasato University School Of Medicine
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Hiraishi Satoshi
Department Of Electrical Engineering Sasebo National College Of Technology
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Takao Atuyoshi
Pediatric Cardiology Heart Institute Tokyo Women's Medical College
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Takao Atsuyoshi
Department Of Cardiology The Heart Institute Of Japan Tokyo Women's Medical University
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Nakamura Makoto
Department Of Applied Chemistry Faculty Of Systems Engineering Wakayama University
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Takao Atuyoshi
Dept. Of Pediatric Cardiology The Heart Institute Of Japan Tokyo Women's Medical College
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Imamura Shinichiro
Tokyo Women's Medical University
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Matsuoka Rumiko
Tokyo Women's Medical University
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Takao Atsuyoshi
Division Of Pediatrics And Surgery Heart Institute Tokyo Women's Medical College.
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Momma Kazuo
Division Of Pediatrics And Surgery Heart Institute Tokyo Women's Medical College.
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