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A 45,X male with Y-specific DNA translocated onto chromosome 15.

作者信息

Gal A, Weber B, Neri G, Serra A, Müller U, Schempp W, Page D C

出版信息

Am J Hum Genet. 1987 Jun;40(6):477-88.

PMID:3473936
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684161/
Abstract

A 20-year-old male patient with chromosomal constitution 45,X, testes and normal external genitalia was examined. Neither mosaicism nor a structurally aberrant Y chromosome was observed when routine cytogenetic analysis was performed on both lymphocytes and skin fibroblasts. Y chromosome-specific single-copy and repeated DNA sequences were detected in the patient's genome by means of 11 different recombinant-DNA probes of known regional assignment on the human Y chromosome. Data indicated that the short arm, the centromere, and part of the long-arm euchromatin of the Y chromosome have been retained and that the patient lacks deletion intervals 6 and 7 of Yq. High-resolution analysis of prometaphase chromosomes revealed additional euchromatic material on the short arm of one of the patient's chromosomes 15. After in situ hybridization with the Y chromosome-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 chromosomal translocation. We conclude that some 45,X males originate from Y-chromosome/autosome translocations following a break in the proximal long arm of the Y chromosome.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995a/1684161/f6b3c2e20067/ajhg00142-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995a/1684161/550367c34d6e/ajhg00142-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995a/1684161/f6b3c2e20067/ajhg00142-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995a/1684161/550367c34d6e/ajhg00142-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995a/1684161/f6b3c2e20067/ajhg00142-0012-a.jpg

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A 45,X male with Y-specific DNA translocated onto chromosome 15.
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Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.使用阵列比较基因组杂交技术对一名 Y;21 不平衡易位的不育男性携带者进行分子剖析及临床评估：病例报告与文献综述
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本文引用的文献

1
Male infant with cat cry syndrome and apparent absence of the Y chromosome.患有猫叫综合征且明显缺失Y染色体的男婴。
Eur J Pediatr. 1980 May;133(3):293-6. doi: 10.1007/BF00496093.
2
A 45,X male with translocation of euchromatic Y chromosome material.一名45,X男性，伴有常染色质Y染色体物质易位。
Hum Genet. 1980;53(3):299-302. doi: 10.1007/BF00287044.
3
45,X constitution in a H-Y antigen positive boy with partial monosomy 5p.一名5p部分单体型的H-Y抗原阳性男孩的45,X核型
Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.
6例XX男性（包括1例产前诊断病例）的分子、细胞遗传学及临床特征分析
J Med Genet. 1998 Sep;35(9):727-30. doi: 10.1136/jmg.35.9.727.
4
A Y/5 translocation in a 45,X male with cri du chat syndrome.一名患有猫叫综合征的45,X男性中的Y/5易位。
Hum Genet. 1987 Oct;77(2):145-50. doi: 10.1007/BF00272382.
5
Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.一名45,X型前脑无裂畸形男性中Yp/18易位的分子检测
Hum Genet. 1988 Nov;80(3):219-23. doi: 10.1007/BF01790089.
6
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.Y；45，X男性病因中的常染色体易位和嵌合体：生育因子定位于Yq11远端
Hum Genet. 1988 May;79(1):2-7. doi: 10.1007/BF00291700.
7
An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.一名由父源X-Y易位和母源X-X不分离导致的XXX男性。
Am J Hum Genet. 1987 Oct;41(4):594-604.
8
Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the nonfluorescent Y chromosome.三例45,X/46,XYnf嵌合体。分子分析显示非荧光Y染色体存在异质性。
Hum Genet. 1987 Jun;76(2):153-6. doi: 10.1007/BF00284913.
9
A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.一名45,X男性，有Y常染色质易位至1号染色体的分子证据。
Hum Genet. 1990 Nov;86(1):94-8. doi: 10.1007/BF00205184.
10
A sterile male with 45,X0 and a Y;22 translocation.一名具有45,X0核型且存在Y;22易位的无精症男性。
Hum Genet. 1991 Jun;87(2):134-8. doi: 10.1007/BF00204168.
Clin Genet. 1981 Apr;19(4):290-7. doi: 10.1111/j.1399-0004.1981.tb00711.x.
4
Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates.人类Y染色体重复序列及高等灵长类相关序列的特征分析
Chromosoma. 1982;87(5):491-502. doi: 10.1007/BF00333470.
5
Extensive sequence homologies between Y and other human chromosomes.Y染色体与其他人类染色体之间存在广泛的序列同源性。
J Mol Biol. 1984 Mar 15;173(4):403-17. doi: 10.1016/0022-2836(84)90388-7.
6
Cytologic evidence for three human X-chromosomal segments escaping inactivation.关于三个逃避失活的人类X染色体片段的细胞学证据。
Hum Genet. 1983;63(2):171-4. doi: 10.1007/BF00291539.
7
Human XX males with Y single-copy DNA fragments.携带Y单拷贝DNA片段的人类XX男性。
Nature. 1984;307(5947):172-3. doi: 10.1038/307172a0.
8
The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms.利用限制性片段长度多态性确定XX男性中X染色体的亲本来源。
Am J Hum Genet. 1984 May;36(3):565-75.
9
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
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Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.单拷贝序列与人类X和Y染色体上的多态性和同源基因座杂交。
Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352-6. doi: 10.1073/pnas.79.17.5352.