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伴有多种先天性异常的智力迟钝的病因及发病机制研究

Etiologic and pathogenetic study of mental retardation with multiple congenital anomalies.

作者信息

Ohdo S, Sonoda T, Ohba K, Hayakawa K

机构信息

Department of Pediatrics, Miyazaki Medical College, Japan.

出版信息

Acta Paediatr Jpn. 1992 Apr;34(2):144-50. doi: 10.1111/j.1442-200x.1992.tb00941.x.

DOI:10.1111/j.1442-200x.1992.tb00941.x
PMID:1377860
Abstract

Etiology and pathogenesis of MCA/MR in 1,023 patients (618 male; 405 female) with mental retardation were studied. Of 1,023 patients, there were 563 cases (317 male; 246 female) with MCA (55%). Among the MCA patients, there were 303 (156 male; 147 female) whose primary etiology was clarified (53.8%). Among the 260 patients with MCA/MR of unknown etiology, there were 23 with recognizable syndromes of unknown etiology and 7 previously reported by us as possibly having a new malformation syndrome. We had 569 patients with mental retardation of unknown etiology including 263 (41.5%) who were involved with MCA.

摘要

对1023例智力发育迟缓患者(618例男性;405例女性)的脑性瘫痪/智力障碍(MCA/MR)的病因及发病机制进行了研究。在1023例患者中,有563例(317例男性;246例女性)患有脑性瘫痪(55%)。在脑性瘫痪患者中,有303例(156例男性;147例女性)的主要病因已明确(53.8%)。在260例病因不明的脑性瘫痪/智力障碍患者中,有23例具有病因不明的可识别综合征,还有7例我们之前报道过可能患有新的畸形综合征。我们有569例病因不明的智力发育迟缓患者,其中263例(41.5%)与脑性瘫痪有关。

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Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.使用染色体端粒的微卫星标记对特发性智力障碍儿童进行亚显微染色体重排筛查。
J Med Genet. 1999 May;36(5):405-11.