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Duplication 2q33→2q37 due to paternal ins (12;2) translocation

 

作者: N. R. Dennis,   R. L. Neu,   R. M. Bannerman,   U. Francke,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1978）
卷期: Volume 1, issue 3  

页码: 271-277

 

ISSN:0148-7299

 

年代: 1978

 

DOI:10.1002/ajmg.1320010303

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: 2q partial trisomy syndrome;minor congenital anomalies;hypospadias;mental retardation

 

数据来源: WILEY

 

摘要:

AbstractAn 18 month‐old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)(q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low‐set ears, and minor digital anomal

 

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