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6号染色体(q22.2q23.1)的新生间质缺失。

A de novo interstitial deletion of chromosome 6 (q22.2q23.1).

作者信息

Park J P, Graham J M, Berg S Z, Wurster-Hill D H

机构信息

Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire.

出版信息

Clin Genet. 1988 Feb;33(2):65-8. doi: 10.1111/j.1399-0004.1988.tb03411.x.

Abstract

A unique interstitial deletion of the long arm of chromosome 6 involving bands q22.2 and q23.1 was observed in a patient referred for craniostenosis and developmental delay. The associated phenotypic anomalies are compared with other reported cases of deletion 6q involving adjacent regions.

摘要

在一名因颅缝早闭和发育迟缓前来就诊的患者中,观察到6号染色体长臂存在一处独特的间质性缺失,涉及q22.2和q23.1带。将相关的表型异常与其他报道的涉及相邻区域的6q缺失病例进行了比较。

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