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Deletion of a portion of the long arm of chromosome 6

 

作者: Rosalie Goldberg,   Bernard Fish,   Arthur Ship,   Robert J. Shprintzen,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1980）
卷期: Volume 5, issue 1  

页码: 73-80

 

ISSN:0148-7299

 

年代: 1980

 

DOI:10.1002/ajmg.1320050110

 

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

 

关键词: 6q deletion syndrome;developmental retardation;obstructive sleep apnea;transitional sleep;hypoplastic digits;cleft palate;malformation syndrome

 

数据来源: WILEY

 

摘要:

AbstractWe describe a 3‐year‐old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low‐set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep

 

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