Cleft of the lip and palate in twins.

Changgeng yi xue za zhi Pub Date : 1999-03-01
Y C Lin, L J Lo, M S Noordhoff, Y R Chen
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Abstract

Background: Cleft lip and palate is one of the most common congenital anomalies in Taiwan. Its etiology remains unknown for the majority of the patients. The study of twins is a classic method for evaluating the relative roles of genetic and environmental factors in the formation of the anomaly.

Methods: In this study, 37 pairs of twins and one set of triplets with cleft lip and palate were evaluated. Clinical data were collected for zygosity determination and analysis of etiologic factors. The concordance rate and heritability index were assessed.

Results: The results showed that the concordance rate was 26% for all twins and 57% among the monozygotic pairs, which is higher than those rates for the Caucasian population. The heritability index was 53%, higher than the other reports as well. The influence of the environment could not be ruled out.

Conclusion: The results confirm a strong genetic role in the etiology of clefts in our patients. Environmental factors were acting as well. The findings in this study support the multifactorial threshold model in the development of cleft lip and palate.

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双胞胎的唇腭裂。
背景:唇腭裂是台湾最常见的先天性畸形之一。大多数患者的病因尚不清楚。对双胞胎的研究是评估遗传因素和环境因素在异常形成中的相对作用的经典方法。方法:对37对双胞胎和1对三胞胎唇腭裂患者进行评估。收集临床资料进行合子测定和病因分析。评估遗传率和一致性指数。结果:结果显示,所有双胞胎和同卵对的基因一致性率分别为26%和57%,高于高加索人群。遗传力指数为53%,高于其他报道。不能排除环境的影响。结论:本研究结果证实了遗传因素在唇裂发病中的重要作用。环境因素也起了作用。本研究结果支持唇腭裂发育的多因子阈值模型。
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