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[Epidemiological aspects of trisomy 21].

作者信息

Giraud F, Mattei J F

出版信息

J Genet Hum. 1975 Oct;23 SUPPL:1-30.

PMID:129536
Abstract

The authors analyse cytogenetic and epidemiological data of 4760 cases of trisomy 21 found in 22 European Centres of Genetics. This cytogenetic study is dealing with the frequency of regular free trisomies and those in mosaics and of trisomies by translocation. The frequency of the different types of translocation has been established thanks to an identification of the chromosomes through marking techniques. The risks and causes of recurrence are discussed. From the epidemiological aspect, the role of the mother's age was the subject of a special study which confirms the bimodal distribution of the trisomy 21. This distribution is discussed in association with the other epidemiological factors: X-ray, virus, auto-immunity and gynaecological disorders.

摘要

相似文献

1
[Epidemiological aspects of trisomy 21].
J Genet Hum. 1975 Oct;23 SUPPL:1-30.
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引用本文的文献

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Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction.新发罗伯逊易位形成过程中的 obligate 短臂交换影响21号染色体不分离中交叉点的位置。 (注:“obligate”在这里可能需要结合专业知识进一步准确理解其在该语境下更精准的含义,目前暂直译为“专性的、 obligate的” )
Am J Hum Genet. 2003 Feb;72(2):488-95. doi: 10.1086/367547. Epub 2002 Dec 23.
2
Unbalanced Robertsonian translocations associated with Down's syndrome or Patau's syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio.
Hum Genet. 1981;59(3):235-9. doi: 10.1007/BF00283671.
3
Maternal age and origin of non-disjunction in trisomy 21.21三体综合征中母亲年龄与不分离的起源
J Med Genet. 1980 Oct;17(5):368-72. doi: 10.1136/jmg.17.5.368.
4
Chromosome studies of males in an institution for the mentally handicapped.一所智障人士机构中男性的染色体研究。
J Med Genet. 1989 Jun;26(6):379-81. doi: 10.1136/jmg.26.6.379.
5
Leukaemia and transient leukaemia in Down syndrome.唐氏综合征中的白血病和短暂性白血病。
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6
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.DNA多态性分析表明,唐氏综合征患者中大多数从头dup(21q)染色体是等臂染色体而非易位染色体。
Am J Hum Genet. 1990 Dec;47(6):968-72.
7
DNA polymorphism analysis in families with recurrence of free trisomy 21.
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8
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