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

T. Nagai, G. Nishimura, R. Kato, T. Hasegawa, H. Ohashi, Y. Fukushima

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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.

Original languageEnglish
Pages (from-to)16-18
Number of pages3
JournalAmerican journal of medical genetics
Volume55
Issue number1
DOIs
Publication statusPublished - 1995 Feb 28
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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