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Characterization of a de novo 48,XX, + r(X), + r(17) by in situ hybridizatio in a patient with neurofibromatosis (NF1)

 

作者: Anne Wiktor,   Daniel L. Van Dyke,   Lester Weiss,  

 

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

页码: 22-24

 

ISSN:0148-7299

 

年代: 1993

 

DOI:10.1002/ajmg.1320450108

 

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

 

关键词: in situ hybridization;ring chromosome;X chromosome;chromosome 17;neurofibromatosis

 

数据来源: WILEY

 

摘要:

AbstractWe describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In sity hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each superunmerary ring chromosome, may have played a role in perturbing the normal developmenal process of this patient. © 1993 Wiley‐Liss, I

 

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