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西澳大利亚多胞胎中的脑瘫:遗传学方面

Cerebral palsy in multiple births in Western Australia: genetic aspects.

作者信息

Petterson B, Stanley F, Henderson D

机构信息

Department of Anatomy and Human Biology, University of Western Australia.

出版信息

Am J Med Genet. 1990 Nov;37(3):346-51. doi: 10.1002/ajmg.1320370311.

DOI:10.1002/ajmg.1320370311
PMID:2260563
Abstract

A study of cerebral palsy in multiple births was undertaken to test genetic involvement and assess the impact of the special conditions of pregnancy and parturition in these cases. Complete ascertainment of cerebral palsy in multiple gestations that occurred in Western Australia between 1956 and 1985 was obtained from the Western Australian Cerebral Palsy Register. There were 74 twins and 5 triplets. Data on sex, birth order, motor handicap, outcome in co-twins and triplets, zygosity, and pedigree information was obtained from the Register, hospital records, and, where possible, by interview of the parent(s) of the propositi. There was a significantly higher (P = 0.0026) concordance rate in MZ than in DZ twin pairs. However, pedigree studies showed no other relatives with a motor handicap similar to that of the propositi. This is consistent with a multifactorial cause in at least some of the cases. The sex ratio of affected twins was found to be 2.1 compared to 1.3 for singletons and all 5 affected triplets were boys. The trend of increasing sex ratio with increasing plurality was significant at the 1% level.

摘要

开展了一项关于多胞胎脑瘫的研究,以检验基因因素的影响,并评估这些病例中特殊妊娠和分娩条件的影响。通过西澳大利亚脑瘫登记处,全面确定了1956年至1985年间在西澳大利亚发生的多胎妊娠中的脑瘫病例。其中有74对双胞胎和5组三胞胎。关于性别、出生顺序、运动障碍、双胞胎和三胞胎中其他胎儿的结局、合子性以及家系信息的数据,是从登记处、医院记录中获取的,并且在可能的情况下,通过对先证者父母的访谈获得。同卵双胞胎的一致性率显著高于异卵双胞胎(P = 0.0026)。然而,家系研究显示,没有其他亲属患有与先证者类似的运动障碍。这表明至少在某些病例中存在多因素病因。发现受影响双胞胎的性别比为2.1,而单胎为1.3,所有5名受影响的三胞胎均为男孩。随着多胎情况增多,性别比上升的趋势在1%水平上具有显著性。

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