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与6号染色体长臂缺失相关的发育异常。

Developmental abnormalities associated with long arm deletion of chromosome No. 6.

作者信息

Bartoshesky L, Lewis M B, Pashayan H M

出版信息

Clin Genet. 1978 Jan;13(1):68-71. doi: 10.1111/j.1399-0004.1978.tb04129.x.

Abstract

A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included development delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformation were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patient's features are compared with others who may have material deleted from the long arm of chromosome No. 6.

摘要

据报道,有一名患者6号染色体长臂存在部分末端缺失。其临床症状包括发育迟缓、生长不良、神经学异常以及多种先天性畸形。这些畸形包括特殊面容、腭裂、房间隔缺损以及外生殖器异常。该患者的特征与其他可能缺失6号染色体长臂物质的患者进行了比较。

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