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Duplication (20p) in association with thyroid carcinoma

 

作者: P. Clark,   K. L. Jones,   G. R. Freidenberg,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1993）
卷期: Volume 45, issue 1  

页码: 14-16

 

ISSN:0148-7299

 

年代: 1993

 

DOI:10.1002/ajmg.1320450106

 

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

 

关键词: chromosome 20;chromosome 21;translocation;thyroid carcinoma

 

数据来源: WILEY

 

摘要:

AbstractWe report on a girl with short stature, mental retardation, mutism, “coarse” facial appearance, and papillary‐follicular thyroid carcinoma. She had dup(20p) derived from a paternal balanced translocation [(12p;20p)]. We speculate that the carcinoma in our patient may be related to the deletion of material from 12p resulting in absence of genetic material normally required for the suppression of thyroid tumorigenesis. © 1993 Wiley‐L

 

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