Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.
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.
Nagai
T
T
Division of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Nishimura
G
G
Kato
R
R
Hasegawa
T
T
Ohashi
H
H
Fukushima
Y
Y
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D004838:Epiphyses / Q000002:abnormalities; D006801:Humans; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities; D013909:Thorax / Q000002:abnormalities*