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A new case of XX-male (XX/XXY mosaic).

作者信息

Kaiser P, Gerhard-Ratschow K, Zabel B, Gey W

出版信息

Hum Genet. 1977 Nov 2;39(1):131-7. doi: 10.1007/BF00273164.

DOI:10.1007/BF00273164
PMID:562834
Abstract

We report a 10-year-old male patients with the predominant karyotype 46,XX. In only one cell of the testis culture a metaphase with 47,XX+G was found. The theories of etiology of XX-males and the reported cases of XX/XXY-mosaics in the literature were discussed.

摘要

相似文献

1
A new case of XX-male (XX/XXY mosaic).
Hum Genet. 1977 Nov 2;39(1):131-7. doi: 10.1007/BF00273164.
2
Mosaicism in XX males.
Hum Genet. 1978 Nov 24;45(1):103-6. doi: 10.1007/BF00277581.
3
[Triploidy in the child. I. Study of phenotype. An observation of triploidy with mosaicism 46, XX/69, XXY].[患儿三倍体。I. 表型研究。一例46, XX/69, XXY嵌合型三倍体的观察]
Pediatrie. 1975 Apr-May;30(3):281-98.
4
Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection.一名通过体外受精-卵胞浆内单精子注射受孕的46,XX/69,XXY二倍体/三倍体嵌合儿童,尽管Y染色体性别决定区域(SRY)在卵巢中表达,但仍具有正常的女性表型和卵巢发育。
J Clin Endocrinol Metab. 2007 Mar;92(3):1008-14. doi: 10.1210/jc.2006-1963. Epub 2006 Dec 12.
5
A Case Report of a Rare 46,XX/47,XXY Mosaicism With Ovotesticular Disorder of Sex Development and a Literature Review.一例罕见的46,XX/47,XXY嵌合体合并卵睾性发育障碍的病例报告及文献复习
Cureus. 2024 Jul 31;16(7):e65856. doi: 10.7759/cureus.65856. eCollection 2024 Jul.
6
Prenatal diagnosis of 46,XX/47,XXY mosaicism: a case report.
Prenat Diagn. 1995 Jan;15(1):64-5. doi: 10.1002/pd.1970150113.
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A Novel Sex Chromosome Mosaicism 45,X/45,Y/46,XY/46,YY/47,XYY Causing Ambiguous Genitalia.一种导致生殖器模糊的新型性染色体嵌合体45,X/45,Y/46,XY/46,YY/47,XYY
Ann Clin Lab Sci. 2017 Nov;47(6):761-764.
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A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.一名核型为XXY/XX/XY的克氏综合征变异患者,通过GTG显带和荧光原位杂交技术进行研究。
Exp Mol Pathol. 1999 Sep;67(1):50-6. doi: 10.1006/exmp.1999.2244.
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Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.一名患有克兰费尔特综合征的表型男性中的罕见XXY/XX嵌合体:病例报告。
Eur J Med Genet. 2006 Jul-Aug;49(4):331-7. doi: 10.1016/j.ejmg.2005.09.001. Epub 2005 Oct 21.
10
A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.一例罕见的46,XX真两性畸形病例,性腺中存在隐匿性嵌合体,伴有含Y染色体性别决定区的细胞。
Intern Med. 1998 May;37(5):467-71. doi: 10.2169/internalmedicine.37.467.

引用本文的文献

1
A synopsis of the human Y chromosome.人类Y染色体概述。
Hum Genet. 1980;55(2):145-75. doi: 10.1007/BF00291764.
2
The etiology of maleness in XX men.XX男性的男性化病因。
Hum Genet. 1981;58(1):105-16. doi: 10.1007/BF00284157.
3
A possible etiology of the infertile 46XX male subject.46XX男性不育患者的一种可能病因。

本文引用的文献

1
XXY cells in a predominantly XX human male: evidence for cell selection.
Pediatrics. 1966 Dec;38(6):982-5.
2
Significance of sex chromosome derived heterochromatin in mammals.
Nature. 1968 Aug 31;219(5157):910-4. doi: 10.1038/219910a0.
3
A Klinefelter patient with XX constitution.
Hereditas. 1970;64(1):148-50. doi: 10.1111/j.1601-5223.1970.tb02285.x.
4
Xg groups and sex abnormalities in people of northern European ancestry.北欧血统人群中的Xg血型组与性异常
J Urol. 1983 Jul;130(1):154-6. doi: 10.1016/s0022-5347(17)51010-1.
4
Mosaicism in XX males.
Hum Genet. 1978 Nov 24;45(1):103-6. doi: 10.1007/BF00277581.
J Med Genet. 1971 Dec;8(4):417-26. doi: 10.1136/jmg.8.4.417.
5
[Extended hypothesis of mosaicism as explanation for XX-men].
Humangenetik. 1974 Jul 15;23(2):161-2.
6
[Masculinization of XX males (author's transl)].XX男性的男性化(作者译)
Humangenetik. 1974;21(3):245-53. doi: 10.1007/BF00279019.
7
Presence of brightly fluorescent material in testes of XX males.XX男性睾丸中存在明亮荧光物质。
J Med Genet. 1973 Jun;10(2):170-4. doi: 10.1136/jmg.10.2.170.
8
A casuistic contribution to the XX male problem.对XX男性问题的一个案例分析贡献
Humangenetik. 1973;17(2):145-54. doi: 10.1007/BF00277908.
9
Paternal transmission of maleness in XX human beings.
N Engl J Med. 1973 Mar 15;288(11):539-45. doi: 10.1056/NEJM197303152881102.
10
Analytic review: nature and origin of males with XX sex chromosomes.分析性综述:具有XX性染色体男性的本质与起源
Am J Hum Genet. 1972 Jan;24(1):71-105.