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患有特纳综合征女性的同胞及父母同胞中的双胞胎情况。

Twins in the sibships and parental sibships of women with Turner's syndrome.

作者信息

Nielsen J, Dahl G

出版信息

Clin Genet. 1976 Aug;10(2NA-NA-760903-760909):93-6. doi: 10.1111/j.1399-0004.1976.tb00019.x.

Abstract

The twin birth frequency in the sibships of 45 females with Turner's syndrome was 3.7% for the 21 females with 45,X and 5.7% for the 24 with other karyotypes. The 5.7% is significantly higher than the expected mean frequency of 1.4% in the Danish population from 1900 to 1974. The twin birth frequency in the sibships of the mothers of the 24 females with karyotypes other than 45 X was 4.7% which is also significantly higher than expected. The twin birth frequency in the sibships of the 21 mothers of 45,X females did not deviate significantly from the expected frequency, and nor did that of the father's sibships. It is concluded that these findings indicate that there might be an association between the increased risk of X chromosome aberration in the progeny due to mitotic non-disjunction, isochromosome or ring chromosome formation on one hand, and twin formation on the other hand. Such X chromosome aberration and twin formation might thus have some common aetiological factors, and some of the possibilities are discussed.

摘要

45名特纳综合征女性同胞中,21名核型为45,X的女性双胞胎出生频率为3.7%,24名核型为其他的女性双胞胎出生频率为5.7%。5.7%显著高于1900年至1974年丹麦人群中1.4%的预期平均频率。24名核型非45,X的女性母亲的同胞中双胞胎出生频率为4.7%,这也显著高于预期。21名45,X女性的母亲的同胞中双胞胎出生频率与预期频率无显著差异,父亲的同胞中也是如此。得出的结论是,这些发现表明,一方面,由于有丝分裂不分离、等臂染色体或环状染色体形成导致子代X染色体畸变风险增加,另一方面,双胞胎形成,两者之间可能存在关联。因此,这种X染色体畸变和双胞胎形成可能有一些共同的病因学因素,并讨论了一些可能性。

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