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Human Reproduction 2007 22(7):1854-1860; doi:10.1093/humrep/dem127
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia

A.K. Faure1,2,3, I. Aknin-Seifer4, V. Satre3, F. Amblard3, F. Devillard3, S. Hennebicq1,2,3, J. Chouteau5, U. Bergues3, R. Levy4 and S. Rousseaux1,2,3,6

1 INSERM, U823, Grenoble F-38706, France 2 Université Joseph Fourier, Institut Albert Bonniot, Grenoble F-38706, France 3 Département de Génétique et Procréation, CHU de Grenoble BP 217, 38 043 Grenoble Cedex 09, France 4 Laboratoire de Biologie de la Reproduction et/ou service de Génétique Moléculaire, Hôpital Nord, 42 055 Saint Etienne, France 5 Clinilab, 38 400 Saint Martin d'Hères, France

6 Correspondence address. Tel: +33-4-76-54-95-12; Fax: +33-4-76–54-95-95; E-mail: sophie.rousseaux{at}ujf-grenoble.fr

BACKGROUND: Cytogenetically detectable aberrations of the Y chromosome, such as isodicentrics, rings or translocations are sometimes associated with male non-obstructive infertility. This report presents a detailed analysis of the clinical, cytogenetic and molecular data in three patients with a re-arranged Y chromosome.

METHODS: Patients A and B were azoospermic, whereas patient C was cryptozoospermic. All had a somatic mosaic karyotype including a population of 45,X cells and a cell line with a re-arranged Y chromosome. A molecular and FISH analysis of their re-arranged Y was undertaken, which specifically focussed on the presence of the AZFa, b and c regions.

RESULTS: The AZFa region was present in all the three patients. The AZFb and AZFc regions were absent in patients A and B, whereas, in patient C, the distal part of AZFb and the whole AZFc region were deleted. Moreover, in this patient, the AZF FISH analysis revealed a mosaicism for the size of the AZF deletion within the re-arranged Y, suggesting a progressive enlargement of the deletion during cell mitotic divisions.

CONCLUSIONS: This investigation allowed not only a more precise description of the abnormal Y, but also shed light on how this re-arrangement could be involved in the infertility phenotype.

Key words: azoospermia/Y deletion/sex chromosomes/chromosomal abnormalities

Submitted on January 9, 2007; resubmitted on March 11, 2007; accepted on April 11, 2007.


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