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Hum. Reprod. Advance Access originally published online on November 26, 2004
Human Reproduction 2005 20(2):437-442; doi:10.1093/humrep/deh626
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Human Reproduction vol. 20 no. 2 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

E. Clementini1, C. Palka2, I. Iezzi2, L. Stuppia2,3, P. Guanciali-Franchi2 and G.M. Tiboni1,4

1 Sezione di Ostetricia e Ginecologia, Dipartimento di Medicina e Scienze dell'Invecchiamento, 2 Sezione di Genetica, Dipartimento di Scienze Biomediche, Facoltà di Medicina e Chirurgia, Università ‘G.d'Annunzio’, Facoltaà di Medicina e Chirurgia, Università ‘G.d’ Annunzio', Ospedale ‘SS. Annunziata, Via dei Vestini, 66013-Chieti and 3 I.T.O.I.–CNR, Bologna, Italy

4 To whom correspondence should be addressed. Email: tiboni{at}unich.it

BACKGROUND: This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques. METHODS: Prior to receiving either IVF or ICSI treatment, each partner of 2078 infertile couples was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 microdeletions. RESULTS: Eighty-two out of 2078 couples (3.95%) had one partner carrying a chromosomal change, and 10 out of 202 (4.95%) men showed Yq11 microdeletions. The chromosomal rearrangements were 44 (2.1%) translocations, 23 (1.1%) gonosomal mosaics, six (0.3%) 47,XXY, five (0.24%) marker chromosomes, three (0.14%) inversions and one (0.05%) duplication. Frequency of anomalies in men and women were similar: 42 and 40 cases respectively. CONCLUSIONS: Partners of infertile couples requiring IVF or ICSI treatment appear to be affected by higher frequency of chromosomal rearrangements than the general population. Categories with greater risk were represented by men with sperm cell count <20 x 106 sperm/ml, and women with history of pregnancy loss.

Key words: assisted reproduction techniques/chromosomal aberration/infertility/Yq11 microdeletion


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