TY - JOUR
T1 - Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome
AU - Nagai, T.
AU - Nishimura, G.
AU - Kato, R.
AU - Hasegawa, T.
AU - Ohashi, H.
AU - Fukushima, Y.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320550106
DO - 10.1002/ajmg.1320550106
M3 - Article
C2 - 7702088
AN - SCOPUS:0028919146
SN - 0148-7299
VL - 55
SP - 16
EP - 18
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 1
ER -