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局限于间质段（14q23 - 14q24.2）的母源性14号染色体单亲二体性。

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).

作者信息

Martin R A, Sabol D W, Rogan P K

机构信息

Department of Pediatrics, MCP Hahnemann School of Medicine, St Christopher's Hospital for Children, Philadelphia, PA, USA.

出版信息

J Med Genet. 1999 Aug;36(8):633-6.

PMID:10465116
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762978/
Abstract

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

摘要

迄今为止，已有14例患者被报道存在母源单亲二体14号染色体长臂完整的情况，且与特定的畸形模式相关。我们报告了一名具有该综合征临床特征的儿童，其表现为母源单亲二体局限于14号染色体的一个特定间质区段。

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Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).局限于间质段（14q23 - 14q24.2）的母源性14号染色体单亲二体性。
J Med Genet. 1999 Aug;36(8):633-6.
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引用本文的文献

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Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.一名患有中度至重度智力残疾的中国男孩中的母源单亲二体14和14号染色体嵌合三体。
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