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具有不一致性性染色体非整倍体的双胞胎。

Twins with nonconcordant sexual aneuploidy.

作者信息

Garcia-Sagredo J M, Merello-Godino C, San Roman C

出版信息

J Med Genet. 1977 Jun;14(3):226-8. doi: 10.1136/jmg.14.3.226.

DOI:10.1136/jmg.14.3.226
PMID:560486
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013565/
Abstract

We present a pair of dizygotic twins with different abnormal karyotypes. The chromosome anomaly is a sexual aneuploidy in both cases: 48,XXXXY in one, 47,XXY in the second. The origin of the chromosomal anomaly and the hypothetical relation between sexual aneuploidy and twinning is discussed. It is concluded that further studies in twins are necessary to prove the not yet solved problems of non-disjunction and double ovulation.

摘要

我们报告了一对具有不同异常核型的双卵双胞胎。在这两个病例中,染色体异常均为性染色体非整倍体:一例为48,XXXXY,另一例为47,XXY。本文讨论了染色体异常的起源以及性染色体非整倍体与双胎妊娠之间的假设关系。得出的结论是,有必要对双胞胎进行进一步研究,以证实尚未解决的不分离和双排卵问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7e7/1013565/4ff818a4fd64/jmedgene00304-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7e7/1013565/be9d46021307/jmedgene00304-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7e7/1013565/4ff818a4fd64/jmedgene00304-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7e7/1013565/be9d46021307/jmedgene00304-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7e7/1013565/4ff818a4fd64/jmedgene00304-0071-a.jpg

相似文献

1
Twins with nonconcordant sexual aneuploidy.具有不一致性性染色体非整倍体的双胞胎。
J Med Genet. 1977 Jun;14(3):226-8. doi: 10.1136/jmg.14.3.226.
2
Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.三名埃及患者的双非整倍体:唐氏-特纳综合征和唐氏-克兰费尔特综合征。
Genet Couns. 2005;16(4):393-402.
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Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.克兰费尔特综合征双胞胎表现为非整倍体不一致、无心畸形、分叉脐带和不同的性腺性别,尽管为单合子。
Prenat Diagn. 2012 Feb;32(2):173-9. doi: 10.1002/pd.2928.
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Antenatally detected Klinefelter's syndrome in twins.产前检测出的双胞胎克兰费尔特综合征。
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Acephalus-acardia in twins with aneuploidy.非整倍体双胞胎中的无脑无心畸形。
Am J Med Genet Suppl. 1987;3:139-43. doi: 10.1002/ajmg.1320280516.
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The Xg blood groups and sex-chromosome aneuploidy.Xg血型与性染色体非整倍体
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本文引用的文献

1
Twinning in Klinefelter's syndrome.
Lancet. 1962 Dec 15;2(7268):1282. doi: 10.1016/s0140-6736(62)92863-5.
2
Chromation-positive Klinefelter's syndrome (primary microrchidism) in a mental-deficiency hospital.一所智障医院中的染色质阳性克兰费尔特综合征(原发性小睾丸症)
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Twins in sibships with Klinefelter's syndrome.患有克兰费尔特综合征的同胞兄弟姐妹中的双胞胎。
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4
Xg and sex-chromosome abnormalities.Xg与性染色体异常。
Br Med Bull. 1969 Jan;25(1):99-103. doi: 10.1093/oxfordjournals.bmb.a070677.
5
Twins in sibships with Klinefelter's syndrome and the XYY syndrome.
Acta Genet Med Gemellol (Roma). 1970 Jul;19(3):399-404. doi: 10.1017/s1120962300014761.
6
Genetic characteristics of families of XO and XXY patients, including evidence of source of X chromosomes in 7 aneuploid patients.XO和XXY患者家系的遗传特征,包括7例非整倍体患者X染色体来源的证据。
J Med Genet. 1968 Sep;5(3):173-80. doi: 10.1136/jmg.5.3.173.
7
[Influence of parental age on the development of the XXXXY abnormality].
J Genet Hum. 1974 Mar;22(1):73-97.
8
Finger-print pattern and the sex chromosomes.
Lancet. 1967 Feb 11;1(7485):298-300. doi: 10.1016/s0140-6736(67)91237-8.