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

Am J Med Genet. 1995 Jan 2;55(1):16-8. doi: 10.1002/ajmg.1320550106.


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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12*
  • Ellis-Van Creveld Syndrome / genetics*
  • Epiphyses / abnormalities
  • Humans
  • Male
  • Pelvic Bones / abnormalities
  • Thorax / abnormalities*