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Vol. 1, No. 6, 2007
Issue release date: January 2008
Section title: Original Article
Sex Dev 2007;1:347–352
(DOI:10.1159/000111766)

Chromosome Abnormalities and Yq Microdeletions in Infertile Italian Couples Referred for Assisted Reproductive Technique

Marchina E. · Imperadori L. · Speziani M. · Omodei U. · Tombesi S. · Barlati S.
aBiology and Genetics Unit, Department of Biomedical Sciences and Biotechnologies, and bMedical Assisted Reproduction Centre, Spedali Civili di Brescia, University of Brescia, Brescia, Italy

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Article / Publication Details

First-Page Preview
Abstract of Original Article

Received: 8/6/2007
Accepted: 9/19/2007
Published online: 1/18/2008

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 4

ISSN: 1661-5425 (Print)
eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD

Abstract

This study analyses the prevalence of karyotype aberrations and Yq microdeletions in infertile couples undergoing intracytoplasmic sperm injection (ICSI). Before undergoing ICSI, each partner of 470 infertile couples was screened for karyotype aberrations by QFQ-banding technique on peripheral blood lymphocytes; male partners were also screened for Yq microdeletions. In 2.55% of the couples karyotype aberrations were found including numerical and structural alterations of autosomes and sex chromosomes. The female group had a high prevalence of low-level sex chromosome mosaicism (1.28%) and 5 cases of structural autosomal abnormalities (1.06%). The male group had 7 structural abnormalities of the autosomes (1.49%), 2 supernumerary marker chromosomes (0.42%), one case of low level gonosomal mosaicism (0.21%), and 2 cases of Y chromosome inversion (0.42%). Eight cases of Yq microdeletions (1.70%) were also found. Screening for genetic factors, chromosomal abnormalities and Yq microdeletions is indicated for couples undergoing assisted reproductive techniques due to the higher prevalence of these factors in infertile couples compared to the population as a whole although different chromosome aberrations have been reported elsewhere.


  

Author Contacts

Eleonora Marchina
Biology and Genetics Unit, Department of Biomedical Science and Biotechnologies
University of Brescia
Viale Europa 11, IT–25123 Brescia (Italy)
Tel. +39 030 371 7243, Fax +39 030 371 7241, E-mail marchina@med.unibs.it

  

Article Information

Received: August 06, 2007
Accepted: September 19, 2007
Published online: January 18, 2008
Number of Print Pages : 6
Number of Figures : 0, Number of Tables : 4, Number of References : 27

  

Publication Details

Sexual Development (Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation)

Vol. 1, No. 6, Year 2007 (Cover Date: January 2008)

Journal Editor: Schartl, M. (Würzburg)
ISSN: 1661–5425 (print), 1661–5433 (Online)

For additional information: http://www.karger.com/SXD


Article / Publication Details

First-Page Preview
Abstract of Original Article

Received: 8/6/2007
Accepted: 9/19/2007
Published online: 1/18/2008

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 4

ISSN: 1661-5425 (Print)
eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD


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