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在一项自然流产调查中确定的13三体。

Trisomy 13 ascertained in a survey of spontaneous abortions.

作者信息

Jacobs P A, Hassold T J, Henry A, Pettay D, Takaesu N

机构信息

Department of Pediatrics, Cornell University Medical College, New York, NY 10021.

出版信息

J Med Genet. 1987 Dec;24(12):721-4. doi: 10.1136/jmg.24.12.721.

DOI:10.1136/jmg.24.12.721
PMID:3430552
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050400/
Abstract

In a series of 2922 karyotyped spontaneous abortions, 62 were found to be trisomic for chromosome 13, 46 having a simple trisomy and 16 a translocation trisomy. The epidemiology of this series of trisomy 13 conceptuses is presented and compared to that of trisomy 13 ascertained from other populations. In most compared parameters the trisomy 13 spontaneous abortions are very similar. However, there is no evidence in our material for the fall in proportion of trisomy 13 conceptuses at very advanced maternal ages that has been reported in three previous studies, one of spontaneous abortions and two of amniocentesis specimens.

摘要

在对2922例自然流产胎儿进行核型分析的研究中，发现62例为13三体，其中46例为单纯三体，16例为易位三体。本文介绍了这一系列13三体妊娠产物的流行病学情况，并与其他人群中确诊的13三体情况进行了比较。在大多数比较参数方面，13三体自然流产情况非常相似。然而，在我们的研究资料中，没有证据表明高龄孕妇中13三体妊娠产物的比例会下降，而此前有三项研究报告过这种情况，其中一项关于自然流产，两项关于羊水穿刺标本。

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Trisomy 13 ascertained in a survey of spontaneous abortions.在一项自然流产调查中确定的13三体。
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Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 273 women with two karyotyped spontaneous abortions.自然流产的核型能否预测随后流产的核型？来自273名有两次核型分析的自然流产女性的证据。
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本文引用的文献

1
A cytogenetic study of 1000 spontaneous abortions.1000例自然流产的细胞遗传学研究。
Ann Hum Genet. 1980 Oct;44(2):151-78. doi: 10.1111/j.1469-1809.1980.tb00955.x.
2
The frequency of 47,+21,47,+18, and 47,+13 at the uppermost extremes of maternal ages: results on 56,094 fetuses studied prenatally and comparisons with data on livebirths.在产妇年龄最高端时47，+21、47，+18和47，+13的发生率：对56094例产前研究胎儿的结果以及与活产儿数据的比较。
Hum Genet. 1984;68(3):211-20. doi: 10.1007/BF00418391.
3
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.
4
Parental origin of de novo chromosome rearrangements.新发染色体重排的亲本来源。
Hum Genet. 1980;53(3):343-7. doi: 10.1007/BF00287054.
5
Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.与唐氏综合征和帕陶氏综合征相关的父母年龄及不平衡罗伯逊易位：与47，+21和47，+13的母龄和父龄效应比较
Ann Hum Genet. 1984 Oct;48(4):313-25. doi: 10.1111/j.1469-1809.1984.tb00845.x.
6
Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses.按母亲年龄划分的染色体畸变率及其影响因素：一项关于52965例羊膜穿刺术的欧洲合作研究报告。
Prenat Diagn. 1984 Spring;4 Spec No:5-44. doi: 10.1002/pd.1970040704.
7
Maternal-age effect in aneuploidy: does altered embryonic selection play a role?非整倍体中的母龄效应：胚胎选择改变是否起作用？
Am J Hum Genet. 1982 Jul;34(4):558-65.
8
Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy.按母亲年龄划分的染色体数目异常发生率，特别提及三体性。
Hum Genet. 1985;70(1):11-7. doi: 10.1007/BF00389450.
9
The relationship between maternal age and chromosome size in autosomal trisomy.常染色体三体中母亲年龄与染色体大小的关系。
Am J Hum Genet. 1986 Jul;39(1):68-78.
10
The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results.染色体结构畸变对人类生殖健康的影响。II. 结果
Clin Genet. 1975 Sep;8(3):169-78. doi: 10.1111/j.1399-0004.1975.tb01490.x.

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