Literature DB >> 22703286

Direct duplication of the Y chromosome with normal phenotype - incidental finding in two cases.

L-C Kuan1, M-T Su, P-L Kuo, T-C Kuo.   

Abstract

Structural rearrangement in the Y chromosome is closely involved in spermatogenesis. However, several Y chromosome variants may have no deleterious effects on male reproduction. Here, we report two cases of Y chromosomal duplication from incidental findings. Their FISH analysis revealed direct duplication of large segments of short and long arms of the Y chromosome. Nearly two intact Y chromosomes were carried in these two cases with normal phenotype.
© 2012 Blackwell Verlag GmbH.

Mesh：

Year:  2012        PMID： 22703286     DOI： 10.1111/j.1439-0272.2012.01320.x

Source DB:  PubMed          Journal:  Andrologia        ISSN： 0303-4569            Impact factor:   2.775


  3 in total

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Authors:  Milena Simioni; François Artiguenave; Vincent Meyer; Ilária C Sgardioli; Nilma L Viguetti-Campos; Isabella Lopes Monlleó; Andréa T Maciel-Guerra; Carlos E Steiner; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-06-01

2.  FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male.

Authors:  Ewa Wiland; Alexander N Yatsenko; Archana Kishore; Halina Stanczak; Agata Zdarta; Marcin Ligaj; Marta Olszewska; Jan Karol Wolski; Maciej Kurpisz
Journal:  Reprod Biomed Online       Date:  2015-05-07       Impact factor: 3.828

3.  So rare we need to hunt for them: reframing the ethical debate on incidental findings.

Authors:  Sebastian Schuol; Christoph Schickhardt; Stefan Wiemann; Claus R Bartram; Klaus Tanner; Roland Eils; Benjamin Meder; Daniela Richter; Hanno Glimm; Christof von Kalle; Eva C Winkler
Journal:  Genome Med       Date:  2015-07-30       Impact factor: 11.117
  3 in total

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