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Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite

 

作者: D. S. Alexander,   D. Soudek,   P. Laraya,   U. Francke,   J. M. Opitz,  

 

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

页码: 265-269

 

ISSN:0148-7299

 

年代: 1978

 

DOI:10.1002/ajmg.1320010302

 

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

 

关键词: pseudohermaphrodite;dicentric iso(Yq) chromosome

 

数据来源: WILEY

 

摘要:

AbstractAn infant with ambiguous genitalia, uterus, tubes, and bilaterally undescended testes was found to have an unstable dicentric Yq chromosome, and 45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq) mosaicism in lymphocytes and fibroblasts. A few other minor cell lines were found in peripheral blood lymphocytes. These findings indicate a high degree of mitotic instability in the centromere of the dicentric i(Yq) chromosome in this patient.

 

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