Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome
✍ Scribed by Nagai, Toshiro ;Nishimura, Gen ;Kato, Rumiko ;Hasegawa, Tomonobu ;Ohashi, Hirofumi ;Fukushima, Yoshimitu
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 283 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
We 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‐Liss, Inc.