[Pachytene stage of meiosis in an infertile man carrying a reciprocal translocation between two acrocentric chromosomes].
Translocations involving acrocentric chromosomes are frequent in chromosomal male infertility. Robertsonian translocations are usually concerned whereas reciprocal translocations between acrocentric chromosomes are rarely encountered. The first reciprocal translocation involving the long arms of the two acrocentric chromosomes 13 and 14 [46,XY,t(13,14)(q33,q22)] is presented in this paper. The patient presents a severe oligoasthenospermia; testicular histology shows an important impairment of spermatogenesis. The quadrivalent is present in all the pachytene nuclei analyzed. A straight contact between the sex vesicle and the quadrivalent was found in 40.9% of the nuclei. A frequent asynapsis is localized at the breakpoint region (33.8%). The XY-autosome association was obtained by the central asynapsis and/or by the terminal chromomeres of the acrocentric chromosomes involved in the translocation.
Laboratoire de Biologie du Développement et de la Reproduction, Faculté de Médecine, Marseille, France.
M O
MO
North
M R
MR
Guichaoua
D
D
Delafontaine
J M
JM
Luciani
D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis; D009845:Oligospermia / Q000235:genetics*; D013090:Spermatocytes / Q000648:ultrastructure; D014178:Translocation, Genetic
Etude du stade pachytène de la méiose chez un homme infertile porteur d'une translocation réciproque entre deux chromosomes acrocentriques.