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14号染色体长臂远端三分之二（q21----qter）三体的产前诊断。

Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter).

作者信息

Duckett D P, Roberts E, McKeever P, Young I D

机构信息

Department of Cytogenetics, Leicester Royal Infirmary, U.K.

出版信息

Prenat Diagn. 1990 Apr;10(4):261-4. doi: 10.1002/pd.1970100409.

DOI:10.1002/pd.1970100409
PMID:2367342
Abstract

A de novo case of 'pure' trisomy 14q21----qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25-year-old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant appeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.

摘要

本文描述了一例“纯”14q21----qter三体的新发病例，该病例是在一名25岁女性超声扫描异常后进行羊膜穿刺术时检测到的。这显然是报道的在孕早期后存活的病例中最大的14q远端重复。该婴儿似乎存在先前在14q远端三体和14q近端三体/14号染色体嵌合三体中观察到的临床异常组合。

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