Origin of trisomy 21 in Down syndrome cases from a Spanish population registry
Origin of trisomy 21 in Down syndrome cases from a Spanish population registry
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DOI：
10.1016/s0003-3995(00)00017-4
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发表时间：
2000-01-01
期刊：
影响因子：
--
通讯作者：
Caballín, MR
中科院分区：
文献类型：
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作者：
Gómez, D;Solsona, E;Caballín, MR
我们进行了一项基于人群的研究的起源额外的21号染色体在38个家庭唐氏综合征（DS）的后代在El Valles（西班牙）。从1991年到1994年，与大多数EUROCAT登记研究相比，发现DS的患病率较高（22.7/10 000例活产、死产和人工流产）。21三体的起源分布为88%的母体（90.6%减数分裂I，6.2%减数分裂II，3.1%母体嵌合体），5.6%的父亲（50%减数分裂I，50%减数分裂II）和5.6%的有丝分裂。双亲嵌合率为2.7%。这些百分比与以前报告的相似。分离研究揭示了一个32.68 cM的母本减数分裂I遗传图谱（约为正常雌性图谱长度的一半）。涉及MI错误的非重组病例的平均母亲年龄（31.1岁）显著低于显示一个可观察到的交叉的病例（36.1岁）（P < 0.05）;这可能支持“非交叉”染色体可能受到异常分离的假设，无论母亲年龄如何。(C)2000年，Elsevier SAS科学与医学版。
We have carried out a population-based study on the origin of the extra chromosome 21 in 38 Families with Down syndrome (DS) offspring in El Valles (Spain). From 1991 to 1994, a higher prevalence of DS (22.7/10 000 live births, stillbirths and induced abortions) was found compared to the majority of EUROCAT registries. The distribution of trisomy 21 by origin was 88 % maternal (90.6 % meiosis I, 6.2 % meiosis II, 3.1 % maternal mosaicism), 5.6 % paternal (50 % meiosis I, 50 % meiosis II) and 5.6 % mitotic. The percentage of parental mosaicism was 2.7 %. These percentages are similar to those previously reported. Recombination study revealed a maternal meiosis I genetic map of 32.68 cM (approximately one-half the length of the normal female map). Mean maternal age among non-recombinant cases involving MI errors was significantly lower (31.1 years) than among those cases showing one observable crossover (36.1 years) (P < 0.05); this could support the hypothesis that 'achiasmate' chromosomes may be subject to aberrant segregation regardless of maternal age. (C) 2000 Editions scientifiques et medicales Elsevier SAS.