与窒息性胸廓发育不良或软骨外胚层发育异常样综合征相关的12号染色体短臂缺失（12)(p11.21p12.2)
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.
作者信息
Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y
机构信息
Division of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
出版信息
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.
我们描述了一名5岁的日本男孩，他有一些影像学表现，具有窒息性胸廓发育不良（ATD）——软骨外胚层发育不良的特征，并伴有新发染色体异常。他还存在轻度智力发育迟缓、身材矮小、毛发和皮肤发育不全、少牙、胸廓狭小、骨盆发育不全以及手部骨骺呈锥形。细胞遗传学研究发现他存在新发的12号染色体（12p11.21p12.2）缺失。这些结果表明，与ATD——软骨外胚层发育不良相关的基因位点可能位于12p11.21p12.2。
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