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特纳综合征与46,X,i(Yq)核型

Turner's syndrome and 46,X,i(Yq) karyotype.

作者信息

Magnelli N C, Vianna-Morgante A M, Frota-Pessoa O, Taboada-Lopez M G

出版信息

J Med Genet. 1974 Dec;11(4):403-6. doi: 10.1136/jmg.11.4.403.

DOI:10.1136/jmg.11.4.403
PMID:4443992
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013219/
Abstract

A patient with features of Turner's syndrome is reported. In her karyotype there were 46 chromosomes including 15 chromosomes in the C group and one metacentric marker the size of a No. 16. This marker was identified through its fluorescence pattern as being an isochromosome for the long arm of the Y. This observation strongly suggests that the male determining factors are situated on the short arm of the Y chromosome.

摘要

报告了一名具有特纳综合征特征的患者。其核型中有46条染色体，包括C组中的15条染色体和一条大小与16号染色体相同的中着丝粒标记染色体。通过其荧光模式鉴定该标记染色体为Y染色体长臂的等臂染色体。这一观察结果有力地表明，男性决定因素位于Y染色体的短臂上。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/aebc828d77ba/jmedgene00321-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/d493ee6470d6/jmedgene00321-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/2f8ccaaebb73/jmedgene00321-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/25ab16738226/jmedgene00321-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/aebc828d77ba/jmedgene00321-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/d493ee6470d6/jmedgene00321-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/2f8ccaaebb73/jmedgene00321-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/25ab16738226/jmedgene00321-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/aebc828d77ba/jmedgene00321-0090-a.jpg

相似文献

1
Turner's syndrome and 46,X,i(Yq) karyotype.特纳综合征与46,X,i(Yq)核型
J Med Genet. 1974 Dec;11(4):403-6. doi: 10.1136/jmg.11.4.403.
2
Isochromosome Yq in a woman with atypical Turner's syndrome.一名患有非典型特纳综合征女性的Y染色体长臂等臂染色体。
Hum Genet. 1977 Aug 31;38(1):49-55. doi: 10.1007/BF00295807.
3
[Turner's syndrome with ring-shaped x chromosome].[伴有环形X染色体的特纳综合征]
Sem Hop. 1971 Dec 20;47(52):2977-86.
4
Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq).特纳综合征的症状及X染色体长臂间质性异染色质（i(Xq)）
Clin Genet. 1975 Apr;7(4):299-303. doi: 10.1111/j.1399-0004.1975.tb00332.x.
5
Letter: X long-arm deletion with features of Turner's syndrome.
Lancet. 1974 Feb 9;1(7850):210. doi: 10.1016/s0140-6736(74)92509-4.
6
Turner's phenotype in the male.男性的特纳氏综合征表型。
Pediatrics. 1967 Oct;40(4):575-85.
7
[Association of a case of Turner's syndrome with familial t(Cq-; Gp+)].
Ann Genet. 1970 Mar;13(1):61-6.
8
Turner's syndrome and 45,XO/46,X,del(X)(p11p22) karyotype.特纳综合征与45,XO/46,X,del(X)(p11p22)核型
Clin Genet. 1981 Apr;19(4):262-5. doi: 10.1111/j.1399-0004.1981.tb00706.x.
9
[Karyological variants in Turner's syndrome].[特纳综合征的核型变异]
Minerva Ginecol. 1978 Oct;30(10):817-20.
10
[Duplication of an X chromosome in a case of Turner's syndrome (45,X-46,XXp+)].[特纳综合征（45,X-46,XXp+）病例中的X染色体重复]
Ann Genet. 1970 Dec;13(4):245-8.

引用本文的文献

1
Two dicentric Y isochromosomes, one without and the Yqh heterochromatic segment: review of the Y isochromosomes.两条双着丝粒Y等臂染色体，一条没有Yqh异染色质区段：Y等臂染色体综述
Hum Genet. 1980;54(1):31-9. doi: 10.1007/BF00279046.
2
Structural abnormalities of the Y chromosome and abnormal external genitals.Y染色体结构异常与外生殖器异常。
Hum Genet. 1980 Feb;53(2):183-8. doi: 10.1007/BF00273493.
3
Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.人类男性决定因素的定位：Y染色体结构异常的全面综述。

本文引用的文献

1
Structural abnormalities of the Y chromosome in man.人类Y染色体的结构异常。
Nature. 1966 Apr 23;210(5034):352-4. doi: 10.1038/210352a0.
2
Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).患有特纳综合征和性染色体嵌合体（45,X-46,XYqi）患者的Y染色体长臂等臂染色体。
J Med Genet. 1969 Dec;6(4):422-5. doi: 10.1136/jmg.6.4.422.
3
Quinacrine fluorescence of variant and abnormal human Y chromosomes.变异和异常人类Y染色体的喹吖因荧光
J Med Genet. 1981 Jun;18(3):161-95. doi: 10.1136/jmg.18.3.161.
4
Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype.XX男性中的(X;Y)(p22.33;p11.2)易位：男性表型的病因
Hum Genet. 1982;62(3):271-6. doi: 10.1007/BF00333535.
5
Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro.
Hum Genet. 1978 Nov 16;44(3):349-55. doi: 10.1007/BF00394301.
6
Isochromosome Yq in a woman with atypical Turner's syndrome.一名患有非典型特纳综合征女性的Y染色体长臂等臂染色体。
Hum Genet. 1977 Aug 31;38(1):49-55. doi: 10.1007/BF00295807.
Chromosoma. 1971;35(3):342-52. doi: 10.1007/BF00326283.
4
A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome.一名患有特纳综合征特征的患者，其Y染色体呈双着丝粒，无性染色体嵌合现象，核型为46,XYq dic。
J Med Genet. 1972 Mar;9(1):96-100. doi: 10.1136/jmg.9.1.96.
5
The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.人类中期染色体的24种荧光模式——鉴别特征与变异性
Hereditas. 1972;67(1):89-102. doi: 10.1111/j.1601-5223.1971.tb02363.x.