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Dandy-Walker Malformation in a Fetus with Pentasomy X (49, XXXXX) Prenatally Diagnosed by Fluorescence in situ Hybridization Technique

 

作者: Thomas D. Myles,   Laurence Burd,   Guillermo Font,   Maureen M. McCorguodale,   Donald J. McCorquodale,  

 

期刊: Fetal Diagnosis and Therapy  （Karger Available online 1995）
卷期: Volume 10, issue 5  

页码: 333-336

 

ISSN:1015-3837

 

年代: 1995

 

DOI:10.1159/000264254

 

出版商: S. Karger AG

 

关键词: Pentasomy X;Dandy-Walker cyst;Prenatal diagnosis

 

数据来源: Karger

 

摘要:

We present the case of a pentasomy X (49, XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios.

 

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