Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

EGASHIRA Masanori; KONDOH Tatsuro; KAWARA Hiroki; MOTOMURA Hideki; TAGAWA Masato; HARADA Naoki; HARADA Naoki; HARADA Naoki; MORIUCHI Hiroyuki

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J-GLOBAL ID：200902242172168286 Reference number：08A0929494

Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

Down症候群の完全な表現型を伴う21番染色体のミラー重複

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Material：
Volume： 50 Issue： 4 Page： 597-599 Publication year： Aug. 2008
JST Material Number： W1358A ISSN： 1328-8067 Document type： Article
Article type：短報 Country of issue： Australia (AUS) Language： ENGLISH (EN)

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Diseases specific to children , Mental disorders , Congenital diseases,deformities in general.

Reference (9)：

PFEIFFER, RA. Mirror image duplications of chromosome 21. Three new cases and discussion of the mechanisms of origin. Hum. Genet. 1982, 62, 361-363
PANGALOS, C. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in 'mirror' duplications of chromosome 21. Am. J. Hum. Genet. 1992, 51, 1240-1250
DELABAR, JM. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur. J. Hum. Genet. 1993, 1, 114-124
KORENBERG, JR. Down syndrome phenotypes : The consequences of chromosomal imbalance. Proc. Natl Acad. Sci. USA. 1994, 91, 4997-5001
JACKSON, JF. Clinical diagnosis of Down's syndrome. Clin. Genet. 1976, 9, 483-487

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