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Literature DB >> 4043963

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.

W Schempp, B Weber, A Serra, G Neri, A Gal, U Wolf.

Abstract

A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.

Entities: Disease

Mesh：

Substances：
Chromatin
Euchromatin

Year: 1985 PMID： 4043963 DOI： 10.1007/bf00283372

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

25 in total

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Authors: I Subrt; B Blehová
Journal: Humangenetik Date: 1974

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Authors: T Caspersson; L Zech; C Johansson; E J Modest
Journal: Chromosoma Date: 1970 Impact factor: 4.316

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Authors: A J Solari
Journal: Int Rev Cytol Date: 1974

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Authors: D Page; B de Martinville; D Barker; A Wyman; R White; U Francke; D Botstein
Journal: Proc Natl Acad Sci U S A Date: 1982-09 Impact factor: 11.205

Review 5. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Authors: R M Davis
Journal: J Med Genet Date: 1981-06 Impact factor: 6.318

6. Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

Authors: D Schweizer; P Ambros; M Andrle
Journal: Exp Cell Res Date: 1978-02 Impact factor: 3.905

7. Cytologic evidence for three human X-chromosomal segments escaping inactivation.

Authors: W Schempp; B Meer
Journal: Hum Genet Date: 1983 Impact factor: 4.132

8. A direct demonstration of somatically paired heterochromatin of human chromosomes.

Authors: M Schmid; D Grunert; T Haaf; W Engel
Journal: Cytogenet Cell Genet Date: 1983

9. An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors:
Journal: Cytogenet Cell Genet Date: 1981

10. Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.

Authors: M Andersson; D C Page; D Pettay; I Subrt; C Turleau; J de Grouchy; A de la Chapelle
Journal: Hum Genet Date: 1988-05 Impact factor: 4.132

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.

1. Robertsonian translocation between the chromosome Y and 15.

2. Identification of human chromosomes by DNA-binding fluorescent agents.

3. The behavior of the XY pair in mammals.

4. Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.

Review 5. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

6. Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

7. Cytologic evidence for three human X-chromosomal segments escaping inactivation.

8. A direct demonstration of somatically paired heterochromatin of human chromosomes.

9. An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

10. The three-dimensional reconstruction of the XY chromosomal pair in human spermatocytes.

Review 1. A sterile male with 45,X0 and a Y;22 translocation.

2. Molecular analysis of aberrations of Xp and Yq.

3. Short arm dicentric Y chromosome with associated statural defects in a sterile man.

4. Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction.

5. Molecular detection of a translocation (Y;15) in a 45,X male.

6. A Y/5 translocation in a 45,X male with cri du chat syndrome.

7. The origin and phenotype of XO males.

8. A 45,X male with a Yp/18 translocation.

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

10. Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.