A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.

作者信息

Sato Daisuke, Kawara Hiroki, Shimokawa Osamu, Harada Naoki, Tonoki Hidefumi, Takahashi Nobuhiro, Imai Yumi, Kimura Hiromi, Matsumoto Naomichi, Ariga Tadashi, Niikawa Norio, Yoshiura Koh-ichiro

机构信息

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

出版信息

Am J Med Genet A. 2008 Jan 1;146A(1):124-7. doi: 10.1002/ajmg.a.31974.

DOI:10.1002/ajmg.a.31974

PMID:18074380

Abstract

摘要

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引用本文的文献

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

BMC Med Genomics. 2022 Dec 21;15(1):266. doi: 10.1186/s12920-022-01422-6.

Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics.

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