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1970 - 1990年丹麦多胞胎中的孤立性腭裂

Isolated cleft palate in Danish multiple births, 1970-1990.

作者信息

Christensen K, Fogh-Andersen P

机构信息

Genetic Epidemiologic Research Unit, Odense University, Denmark.

出版信息

Cleft Palate Craniofac J. 1993 Sep;30(5):469-74. doi: 10.1597/1545-1569_1993_030_0469_icpidm_2.3.co_2.

DOI:10.1597/1545-1569_1993_030_0469_icpidm_2.3.co_2
PMID:8218310
Abstract

The etiology of most cases of isolated cleft palate (CP) is unknown. The relative importance of genes and environment can be studied using the classical twin method but only few and potentially highly selected CP twin data are available. The present CP twin study was based on four Danish nationwide ascertainment sources of CP multiple births in the period 1970-1990. The ascertainment sources covered the time period from 15 completed weeks of pregnancy to adolescence for the older cohorts. A total of 18 CP cases in multiple births were identified; two monozygotic twin pairs of which one was concordant and eight were dizygotic, discordant twin pairs. Three cases were from two triplet sets, and four discordant twin pairs were of unknown zygosity. The twin concordance rates suggest that genetic factors play a major role in the etiology of CP, but environmental and/or stochastic factors are probably acting as well.

摘要

大多数孤立性腭裂(CP)病例的病因尚不清楚。基因和环境的相对重要性可以通过经典的双胞胎方法进行研究,但仅有少量且可能经过高度筛选的CP双胞胎数据可用。本CP双胞胎研究基于丹麦1970年至1990年期间全国范围内的四个CP多胞胎确诊来源。确诊来源涵盖了较年长队列从妊娠15足周到青春期的时间段。共识别出18例多胞胎CP病例;两对单卵双胞胎,其中一对一致,八对双卵双胞胎,不一致。三例来自两个三胞胎组,四对不一致的双胞胎的合子性未知。双胞胎一致率表明,遗传因素在CP病因中起主要作用,但环境和/或随机因素可能也在起作用。

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bioRxiv. 2025 Feb 5:2025.01.18.633396. doi: 10.1101/2025.01.18.633396.
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Risk of oral clefts in twins.双胞胎发生口腔裂的风险。
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Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort.
口腔裂畸形的双胎不一致子女的复发风险:丹麦 1936-2004 年口腔裂畸形双胎队列的基于人群的队列研究。
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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.在唇腭裂不一致的单卵双胞胎中寻找基因组改变。
Twin Res Hum Genet. 2009 Oct;12(5):462-8. doi: 10.1375/twin.12.5.462.
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A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance.丹麦一项超过 54000 名唇腭裂病例亲属的复发模式队列研究:对多因素阈值遗传模型的支持。
J Med Genet. 2010 Mar;47(3):162-8. doi: 10.1136/jmg.2009.069385. Epub 2009 Sep 14.
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Cleft Palate Craniofac J. 2005 May;42(3):255-9. doi: 10.1597/03-139.1.
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