Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature.
OBJECTIVE
To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia.


METHODS
Case report with review of the scientific literature.


METHODS
Cytogenetics department.


METHODS
Two men with azoospermia and normal hormonal levels.


METHODS
Peripheral blood lymphocytes were obtained for karyotype, and metaphases were studied by standard GBG, RBG, and CBG banding procedures.


METHODS
Karyotype GBG, RBG, and CBG banding.


RESULTS
Karyotype revealed balanced translocation involving a chromosome 1 whole arm and an acrocentric G chromosome p arm: 46,XY,t(1;21)(q11;p13) (patient 1) and 46,XY,t(1;22)(q11;p11) (patient 2).


CONCLUSIONS
With regard to published cases of whole-arm translocation of human chromosome 1 with an acrocentric p arm and a maternal origin of these abnormalities, we argue for an impairment of meiosis resulting in a high probability of quadrivalent-XY-body interaction. Male factor infertility might be due to two poor prognostic factors, first the involvement of human chromosome 1 (and its heterochromatic region) and second the involvement of an acrocentric chromosome p-arm breakpoint. This probable interaction between the pachytene quadrivalent and XY body might explain azoospermia.
Vialard
François
F
Laboratoire de Cytogenetique, Hôpital Saint Antoine, Paris, France. fvialard@hotmail.com
Nouchy
Marc
M
Malan
Valérie
V
Taillemite
Jean-Louis
JL
Selva
Jacqueline
J
Portnoï
Marie-France
MF
D000328:Adult; D002904:Chromosomes, Human, 21-22 and Y / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000150:complications / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*