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Silver‐like syndrome and a small deletion on chromosome 13

 

作者: Jan Wahlström,   Gösta Holmgren,   Kerstin Albertsson‐Wikland,   Carl‐Johan Törnhage,  

 

期刊: Acta Pædiatrica  （WILEY Available online 1993）
卷期: Volume 82, issue 12  

页码: 993-996

 

ISSN:0803-5253

 

年代: 1993

 

DOI:10.1111/j.1651-2227.1993.tb12618.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Chromosome 13;deletion;Silver syndrome

 

数据来源: WILEY

 

摘要:

A female child is described with features of Silver's syndrome, including pre‐ and postnatal growth delay, triangular face, hypertelorism, clinodactyly and developmental delay. In all lymphocytes analyzed, a small deletion was found in chromosome 13. The karyotype was 46,XX,del(13)(q22–

 

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