Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia.
BACKGROUND
Cytogenetically detectable aberrations of the Y chromosome, such as isodicentrics, rings or translocations are sometimes associated with male non-obstructive infertility. This report presents a detailed analysis of the clinical, cytogenetic and molecular data in three patients with a re-arranged Y chromosome.


METHODS
Patients A and B were azoospermic, whereas patient C was cryptozoospermic. All had a somatic mosaic karyotype including a population of 45,X cells and a cell line with a re-arranged Y chromosome. A molecular and FISH analysis of their re-arranged Y was undertaken, which specifically focussed on the presence of the AZFa, b and c regions.


RESULTS
The AZFa region was present in all the three patients. The AZFb and AZFc regions were absent in patients A and B, whereas, in patient C, the distal part of AZFb and the whole AZFc region were deleted. Moreover, in this patient, the AZF FISH analysis revealed a mosaicism for the size of the AZF deletion within the re-arranged Y, suggesting a progressive enlargement of the deletion during cell mitotic divisions.


CONCLUSIONS
This investigation allowed not only a more precise description of the abnormal Y, but also shed light on how this re-arrangement could be involved in the infertility phenotype.
Faure
A K
AK
INSERM, U823, Grenoble F-38706, France.
Aknin-Seifer
I
I
Satre
V
V
Amblard
F
F
Devillard
F
F
Hennebicq
S
S
Chouteau
J
J
Bergues
U
U
Levy
R
R
Rousseaux
S
S
D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping / Q000379:methods*; D041322:Chromosomes, Human, Y; D003582:Cytogenetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D011995:Recombination, Genetic; D012729:Sex Chromosome Aberrations