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Titre du document / Document title

FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY, der(13;14)(q10;q10) karyotype

Auteur(s) / Author(s)

MOREL Frédéric (1) ; ROUX Christophe (1) ; BRESSON Jean-Luc (1) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Service de Cytogénétique-Immunocytologie-Biologie du Développement et de la Reproduction, CECOS Besançon, Franche-Comté, Centre Hospitalier Universitaire Saint Jacques, EA3185: génétique et Reproduction, 25030 Besançon, FRANCE

Résumé / Abstract

Meiotic segregation of chromosomes 13 and 14 was studied in the ejaculated spermatozoa of three men carrying a translocation der(13;14)(q10;q10). The spermatozoa of these patients and of a donor with a normal 46,XY karyotype (control) were analysed by two-colour fluorescent in-situ hybridization (FISH) with specific chromosomal painting of chromosomes 13 and 14, by two-colour FISH detecting chromosomes 18 and 21 and by triple-colour FISH for chromosomes X, Y and 8. For patients 1, 2 and 3, respectively, 81.34, 82.60 and 88.90% of the analysed nuclei showed normal or balanced chromosomal status, resulting from the alternate segregation of the translocation. The rates of spermatozoa with an unbalanced status (disomy and nullisomy, 13 or 14) resulting from the adjacent mode of segregation were estimated respectively at 18.06, 16.32 and 10.80 (for patients 1, 2 and 3). Additional colour FISH analysis with probes specific for chromosomes X, Y, 8, 18 and 21 showed a significant increase in some disomy frequencies (8, 18, 21, X and Y for patient 1, only 18 for patient 2) in comparison with the control. These results would seem to indicate an interchromosomal effect.

Revue / Journal Title

Molecular human reproduction    ISSN  1360-9947 

Source / Source

2001, vol. 7, no5, pp. 483-488 (38 ref.)

Langue / Language

Anglais

Editeur / Publisher

Oxford University Press, Oxford, ROYAUME-UNI  (1996) (Revue)

Mots-clés anglais / English Keywords

Karyotype

;

Spermatozoa

;

Fluorescence in situ hybridization

;

Chromosome

;

Chromosome translocation

;

Meiosis

;

Human

;

Abnormal chromosome

;

Chromosomal aberration

;

Germinal cell

;

Mots-clés français / French Keywords

Caryotype

;

Spermatozoïde

;

Hybridation in situ fluorescence

;

Chromosome

;

Translocation chromosomique

;

Méiose

;

Homme

;

Chromosome anormal

;

Aberration chromosomique

;

Cellule germinale

;

Mots-clés espagnols / Spanish Keywords

Cariotipo

;

Espermatozoide

;

Hibridación in situ fluorescencia

;

Cromosoma

;

Translocación cromosómica

;

Meiosis

;

Hombre

;

Cromosoma anormal

;

Aberración cromosómica

;

Célula germinal

;

Localisation / Location

INIST-CNRS, Cote INIST : 26360, 35400009524530.0120

Nº notice refdoc (ud4) : 964363



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