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

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ORRICO ALFREDO; MARSEGLIA GIUSEPPINA; PESCUCCI CHIARA; CORTESI AMBRA; PIOMBONI PAOLA; GIANSANTI ANDREA; GERUNDINO FRANCESCA; PONCHIETTI ROBERTO

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Journal: International Journal of Fertility & Sterility Year:2016 | Volume:9 | Issue:4 Page(s): 581-585

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Title

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

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Keywords

TRANSLOCATION

AZOOSPERMIA

HYPOGONADISM

Y CHROMOSOME

Abstract

Chromosomal defects are relatively frequent in infertile men however, TRANSLOCATIONs between the Y CHROMOSOME and autosomes are rare and less than 40 cases of Y-autosome TRANSLOCATION have been reported. In particular, only three individuals has been described with a Y; 21 TRANSLOCATION, up to now. We report on an additional case of an infertile man in whom a Y; 21 TRANSLOCATION was associated with the deletion of a large part of the Y CHROMOSOME long arm. Applying various techniques, including conventional cytogenetic procedures, fluorescence in situ hybridisation (FISH) analysis and array comparative genomic hybridization (array-CGH) studies, we identified a derivative chromosome originating from a fragment of the short arm of the chromosome Y translocated on the short arm of the 21 chromosome. The Y CHROMOSOME structural rearrangement resulted in the intactness of the entire short arm, including the sex-determining region Y (SRY) and the short stature homeobox (SHOX) loci, although translocated on the 21 chromosome, and the loss of a large part of the long arm of the Y CHROMOSOME, including AZOOSPERMIA factor-a (AZFa), AZFb, AZFc and Yq heterochromatin regions. This is the first case in which a (Yp; 21p) TRANSLOCATION has been ascertained using an array-CGH approach, thus reporting details of such a rearrangement at higher resolution.

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APA: Copy

ORRICO, ALFREDO, MARSEGLIA, GIUSEPPINA, PESCUCCI, CHIARA, CORTESI, AMBRA, PIOMBONI, PAOLA, GIANSANTI, ANDREA, GERUNDINO, FRANCESCA, & PONCHIETTI, ROBERTO. (2016). 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. INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY, 9(4), 581-585. SID. https://sid.ir/paper/305855/en

Vancouver: Copy

ORRICO ALFREDO, MARSEGLIA GIUSEPPINA, PESCUCCI CHIARA, CORTESI AMBRA, PIOMBONI PAOLA, GIANSANTI ANDREA, GERUNDINO FRANCESCA, PONCHIETTI ROBERTO. 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. INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY[Internet]. 2016;9(4):581-585. Available from: https://sid.ir/paper/305855/en

IEEE: Copy

ALFREDO ORRICO, GIUSEPPINA MARSEGLIA, CHIARA PESCUCCI, AMBRA CORTESI, PAOLA PIOMBONI, ANDREA GIANSANTI, FRANCESCA GERUNDINO, and ROBERTO PONCHIETTI, “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,” INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY, vol. 9, no. 4, pp. 581–585, 2016, [Online]. Available: https://sid.ir/paper/305855/en

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