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

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.

• Authors: T Nagai, G Nishimura, R Kato, T Hasegawa, H Ohashi, Y Fukushima
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 55 Issue 1 Pg. 16-8 (Jan 02 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7702088 (Publication Type: Case Reports, Journal Article)

Topics

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