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Hum. Reprod. Advance Access originally published online on April 29, 2004
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Human Reproduction, Vol. 19, No. 6, 1345-1351, June 2004
© 2004 European Society of Human Reproduction and Embryology

Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10)

E. Anton, J. Blanco, J. Egozcue and F. Vidal1

Unitat de Biologia Cel lular, Facultat de Ciències, Universitat Autònoma de Barcelona, 08193-Bellaterra, Barcelona, Spain

1 To whom correspondence should be addressed. e-mail: francesca.vidal{at}uab.es

BACKGROUND: Robertsonian translocation t(13;14) is one of the most common structural reorganization in humans, but meiotic segregation studies in these carriers are still limited. The segregation pattern of the chromosomes involved, the possible influence of the translocated chromosomes on the synapsis and disjunction of other chromosome pairs [interchromosomal effects (ICE)] and the rates of unbalanced spermatozoa produced still deserve attention, not only to obtain a better characterization of the meiotic behaviour of this reorganization, but also to offer carrier couples accurate genetic counselling. METHODS: Multicolour fluorescence in-situ hybridization was used to analyse the segregation of chromosomes 13 and 14 and the possible occurrence of ICE (on chromosomes 18, 21, 22, X and Y) in seven male carriers of a t(13;14)(q10;q10). RESULTS AND CONCLUSIONS: The individuals analysed showed a homogeneous segregation pattern, with a clear predominance of alternate segregations resulting in the production of normal/balanced spermatozoa (83–88.23%). A significant increase in the disomy rates for the sex chromosomes, which could be considered as a positive ICE, was observed in two of the carriers analysed.

Key words: FISH/interchromosomal effects/meiotic segregation/Robertsonian translocations/spermatozoa


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