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

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

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22).由于新发的不平衡易位t(13;21)(q10;q22)导致的21号染色体部分三体性唐氏综合征。

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Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.两例21号染色体部分三体（pter-q22.1），无唐氏综合征主要特征。

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A patient with Down syndrome with a de novo derivative chromosome 21.一位唐氏综合征患者，携带一条新衍生的 21 号染色体。

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Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.一名男性婴儿存在21号染色体pter至q21.2四体，无典型唐氏综合征的畸形特征，但有中度智力发育迟缓。

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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.一名嵌合型唐氏综合征患者同时存在psu dic(21)(q22.3)和t(13;17)(q14.1;p12)：31例类似双着丝粒染色体的综述

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Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.一名因新发染色体内重复导致单纯21q22.11-qter部分三体而具有一些唐氏综合征临床特征的女孩的临床、细胞遗传学和分子特征

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Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.母亲的平衡易位（4；21）导致一名后代出现4号染色体长臂和21号染色体长臂部分重复，但无唐氏综合征的表型表现。

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[Down-Turner syndrome (45,X/47,XY,+21): case report and review].[唐氏综合征（45,X/47,XY,+21）：病例报告与文献复习]

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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.部分 21 三体综合征伴或不伴唐氏综合征关键区高度受限（HR-DSCR）：两例新病例报告及基因型-表型相关性再分析。

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

J Genet. 2014 Apr;93(1):189-92. doi: 10.1007/s12041-014-0329-4.

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