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欧洲裔犹太人与北非或亚裔犹太人之间唐氏综合征的产妇年龄别发病率差异。

Differences in maternal age-specific rates of Down syndrome between Jews of European origin and of North African or Asian origin.

作者信息

Hook E B, Harlap S

出版信息

Teratology. 1979 Oct;20(2):243-8. doi: 10.1002/tera.1420200209.

DOI:10.1002/tera.1420200209
PMID:160625
Abstract

Rates of Down syndrome in livebirths in West Jerusalem in 1964-1975 were studied in relation to the mother's continent of birth or, if she was born in Israel, to the maternal grandfather's continent of birth. In women of European origin the crude livebirth rate of Down syndrome was 1.3 per 1,000 livebirths. This crude rate and the maternal age-specific rates in this group were very close to those observed in a Swedish study and two studies of white livebirths in the United States. For West Jerusalem women of North African or Asian origin the crude rate was about 2.4 per 1,000 livebirths, and at all maternal ages except the youngest their rates were higher than for women of European origin. The summary adjusted relative risk for a Down syndrome livebirth for all those of North African or Asian origin, compared to those for women of European origin, was about 1.56. If attention is restricted to mothers born outside of Israel, the adjusted relative risk for mothers born in Europe, the Americas or English speaking countries of the British commonwealth compared to those born in North Africa or Asia was 1.97, consistent with a two-fold difference in the likelihood of a Down syndrome livebirth between thes two groups. To our knowledge this is the first report of ethnic differences in maternal age specific rates of Down syndrome that cannot be plausibly explained by differences in ascertainment.

摘要

对1964年至1975年在耶路撒冷西部出生的活产婴儿中唐氏综合征的发病率进行了研究,研究对象为母亲的出生大洲,或者如果母亲出生在以色列,则为外祖父的出生大洲。在欧洲裔女性中,唐氏综合征的粗活产发病率为每1000例活产中有1.3例。该粗发病率以及该组中按母亲年龄划分的发病率与瑞典的一项研究以及美国两项白人活产研究中观察到的发病率非常接近。对于北非或亚洲裔的耶路撒冷西部女性,粗发病率约为每1000例活产中有2.4例,并且在除最年轻年龄外的所有母亲年龄组中,她们的发病率均高于欧洲裔女性。与欧洲裔女性相比,所有北非或亚洲裔活产婴儿患唐氏综合征的汇总调整后相对风险约为1.56。如果将注意力限制在出生在以色列境外的母亲身上,与出生在北非或亚洲的母亲相比,出生在欧洲、美洲或英联邦英语国家的母亲患唐氏综合征活产的调整后相对风险为1.97,这与这两组之间唐氏综合征活产可能性的两倍差异一致。据我们所知,这是第一份关于唐氏综合征按母亲年龄划分的发病率存在种族差异的报告,这种差异无法用确诊差异来合理解释。

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经产妇年龄调整后的唐氏综合征报告活产患病率的国际差异。
J Med Genet. 1999 May;36(5):386-93.
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Analysis of DNA haplotypes suggests a genetic predisposition to trisomy 21 associated with DNA sequences on chromosome 21.
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Issues in analysis of data on paternal age and 47,+21: implications for genetic counseling for Down syndrome.父亲年龄与47,+21数据的分析问题:对唐氏综合征遗传咨询的影响
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