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X和G染色体的嵌合双非整倍性。

Mosaic double aneuploidy of X and G chromosomes.

作者信息

Osborne R A, Hennigar G R, Barnett C D

出版信息

Am J Ment Defic. 1975 May;79(6):644-7.

PMID:125038
Abstract

Three cases having typical mongoloid features and few or no features of Turner's syndrome were reported. Four distinct stem lines of cells 45,X/46,X,+G/46,XX and 47,XX,+G were found to be present in the lymphocytes of two females. In the third case, only three stem lines were found, the 45,X line being absent. The proportion of cell lines was different in each case. Possible mechanisms for the mosaicism were suggested.

摘要

报告了3例具有典型蒙古人种特征且很少或没有特纳综合征特征的病例。在两名女性的淋巴细胞中发现存在45,X/46,X,+G/46,XX和47,XX,+G这4种不同的细胞系。在第三例中,仅发现3种细胞系,不存在45,X细胞系。每种情况下细胞系的比例都不同。文中提出了嵌合体形成的可能机制。

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Mosaic double aneuploidy of X and G chromosomes.X和G染色体的嵌合双非整倍性。
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引用本文的文献

1
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.152 例特纳综合征患者的双重诊断:对第二状况的认识可能会导致治疗和/或监测的改变。
Am J Med Genet A. 2018 Nov;176(11):2435-2445. doi: 10.1002/ajmg.a.40470. Epub 2018 Aug 6.
2
Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.唐氏综合征:一例伴有双重单克隆染色体异常的病例。
Case Rep Pediatr. 2016;2016:8760504. doi: 10.1155/2016/8760504. Epub 2016 Sep 8.
3
Down-Turner syndrome: case report and review.
唐氏综合征:病例报告与综述
J Med Genet. 1994 Oct;31(10):807-10. doi: 10.1136/jmg.31.10.807.
4
Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.唐氏综合征/特纳综合征嵌合体。双非整倍体作为染色体异常产前漏诊的罕见原因。
Arch Dis Child. 1981 Dec;56(12):962-3. doi: 10.1136/adc.56.12.962.
5
Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome.患有唐氏镶嵌特纳综合征儿童的先天性膝关节脱位。
J Med Genet. 1981 Apr;18(2):148-51. doi: 10.1136/jmg.18.2.148.