Influence of advanced age of maternal grandmothers on Down syndrome.

Influence of advanced age of maternal grandmothers on Down syndrome.
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祖母高级时代对唐氏综合症的影响。

DOI:
10.1186/1471-2350-7-4
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发表时间:
2006-01-14
影响因子:
--
通讯作者:
Ramachandra, NB
Ramachandra, NB
中科院分区:
医学4区
文献类型:
--
作者:
Malini, SS;Ramachandra, NB

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唐氏综合征(DS)是与智力低下相关的最常见的染色体异常。这是由于游离三体21(92-95%)、镶嵌三体21(2-4%)和易位(3-4%)的发生所致。高龄孕妇是母体减数分裂不分离的危险因素。在印度,每小时有三个患有DS的孩子出生,而且年轻母亲生下的DS儿童比高龄母亲生的更多。因此,需要对DS家系进行详细的分析,以找出导致不分离的其他可能的原因。我们调查了69个细胞遗传学确诊的DS儿童家系,并构建了这些家系的家系。我们还随机选择了200个不同宗教信仰的家庭作为对照。采用Logistic回归进行统计分析。69例DS患者中,67例为游离21三体,2例为嵌合21三体,无一例发生易位。与高龄母亲相比,低龄母亲出生的双胎数量更多。还有记录表明,30岁及以上的母亲所生的年轻母亲(18至29岁)在患有DS的儿童中所占比例高达91.3%。对DS儿童进行病例对照研究的Logistic回归分析显示,一次使用所有四个变量时,祖母年龄的优势比显著。但是,父母年龄的影响小于外祖母年龄的影响。因此,外祖母年龄每增加一年,出生DS婴儿的风险(几率)就增加30%。除了已知的风险因素外,母亲的年龄、父亲的年龄、母亲出生时外祖母的年龄也是唐氏综合症发生的风险因素。
Down syndrome (DS) is the most common chromosomal anomaly associated with mental retardation. This is due to the occurrence of free trisomy 21 (92–95%), mosaic trisomy 21 (2–4%) and translocation (3–4%). Advanced maternal age is a well documented risk factor for maternal meiotic nondisjunction. In India three children with DS are born every hour and more DS children are given birth to by young age mothers than by advanced age mothers. Therefore, detailed analysis of the families with DS is needed to find out other possible causative factors for nondisjunction. We investigated 69 families of cytogenetically confirmed DS children and constructed pedigrees of these families. We also studied 200 randomly selected families belonging to different religions as controls. Statistical analysis was carried out using logistic regression. Out of the 69 DS cases studied, 67 were free trisomy 21, two cases were mosaic trisomy 21 and there were none with translocation. The number of DS births was greater for the young age mothers compared with the advanced age mothers. It has also been recorded that young age mothers (18 to 29 years) born to their mothers at the age 30 years and above produced as high as 91.3% of children with DS. The logistic regression of case- control study of DS children revealed that the odds ratio of age of grandmother was significant when all the four variables were used once at a time. However, the effect of age of mother and father was smaller than the effect of age of maternal grandmother. Therefore, for every year of advancement of age of the maternal grandmother, the risk (odds) of birth of DS baby increases by 30%. Besides the known risk factors, mother's age, father's age, the age of the maternal grandmother at the time of birth of the mother is a risk factor for the occurrence of Down syndrome.
DOI: 10.1111/j.1469-1809.1984.tb00843.x
发表时间: 1984-01-01
影响因子: 1.9
作者:
AAGESEN, L;GRINSTED, J;MIKKELSEN, M
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发表时间: 2002-05-01
期刊: TERATOLOGY
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DOI: 10.1093/hmg/9.4.515
发表时间: 2000-03-01
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