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Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia‐like syndrome

 

作者: Toshiro Nagai,   Gen Nishimura,   Rumiko Kato,   Tomonobu Hasegawa,   Hirofumi Ohashi,   Yoshimitu Fukushima,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1995）
卷期: Volume 55, issue 1  

页码: 16-18

 

ISSN:0148-7299

 

年代: 1995

 

DOI:10.1002/ajmg.1320550106

 

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

 

关键词: asphyxiating thoracic dystrophy;chondroectodermal dysplasia;Jeune syndrome;chromosome abnormality;del(12)(p11.21p12.2);Ellisvan Creveld syndrome

 

数据来源: WILEY

 

摘要:

AbstractWe describe a 5‐year‐old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)‐chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone‐shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD‐chondroectodermal dysplasia may be situated at 12p11.21p12.2. © 1995 Wiley

 

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