Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation

BACKGROUND: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2002-03, Vol.17 (3), p.564-569
Main Authors: Buonadonna, A.L., Cariola, F., Caroppo, E., Carlo, A.Di, Fiorente, P., Valenzano, M.C., D'Amato, G., Gentile, M.
Format: Article
Language:English
Subjects:
Adult
alternate centromere inactivation
Biological and medical sciences
Centromere - physiology
Chromosome aberrations
Chromosomes, Human, Pair 14 - genetics
Cytogenetic Analysis
Female
Gynecology. Andrology. Obstetrics
Humans
In Situ Hybridization, Fluorescence
Male
Male genital diseases
male infertility
Medical genetics
Medical sciences
Molecular Biology - methods
Non tumoral diseases
Oligospermia - genetics
Translocation, Genetic
Y Chromosome - genetics
Y-autosome translocation
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Summary:BACKGROUND: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14)(q12;p11). METHODS AND RESULTS: Cytogenetic, fluorescent in-situ hybridization (FISH) and molecular studies have been performed. A 14/22 (D14Z1/D22Z1) centromere and a Y centromere (DYZ1) probe both showed a signal on the translocation chromosome, confirming its dicentricity. Each copy of the translocation chromosome had only one primary constriction, with inactivation of the Y centromere in most (90%) of the cells. The 14 centromere was inactive in the remaining cells (10%). FISH and molecular deletion mapping analysis allowed acute assignment of the Yq breakpoint to the junction of euchromatin and heterochromatin (Yq12), distal to the AZF gene location (Yq11). CONCLUSIONS: This study supports the hypothesis that in Y/A translocations infertility might be related to meiotic disturbances with spermatogenetic arrest. In addition, sex chromosome molecular investigations, performed on single spermatids, suggest a highly increased risk of producing chromosomally abnormal embryos.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/17.3.564