一名畸形婴儿的16号染色体长臂末端缺失：46，XY，del(16)(q22) 。 - Suppr

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超能文献

A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22).

作者信息

Taysi K, Fishman M, Sekhon G S

出版信息

Birth Defects Orig Artic Ser. 1978;14(6C):343-7.

PMID:728588

Abstract

摘要

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A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22).一名畸形婴儿的16号染色体长臂末端缺失：46，XY，del(16)(q22) 。

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Identification and characterization of novel variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.鉴定和表征新型变体：调节 TPP1 蛋白水平可以抵消种系失活变体对端粒长度的影响。

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Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.通过“反向染色体描绘”和分子分析对三条新生衍生16号染色体进行特征描述。

Am J Hum Genet. 1993 May;52(5):987-97.

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.16号染色体间质性长臂缺失的高分辨率图谱：与表型的关系

J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828.

Interstitial deletion for a region in the long arm of chromosome 16.16号染色体长臂某区域的间质缺失。

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Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.患有16号染色体长臂缺失综合征的同卵双胞胎：证明16q12.2-q13是关键带区的证据。

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Interstitial deletion and ring chromosome derived from 16q.源自16q的间质性缺失和环状染色体。

J Med Genet. 1987 May;24(5):308-12. doi: 10.1136/jmg.24.5.308.

Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.通过流式核型分析确诊一名畸形儿童疑似16号染色体长臂缺失。

J Med Genet. 1987 Feb;24(2):88-92. doi: 10.1136/jmg.24.2.88.

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