Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.
OBJECTIVE
To better define an abnormal karyotype found in a male with primary infertility.


METHODS
Case report.


METHODS
Molecular and cytogenetics unit in a university-affiliated hospital.


METHODS
A 41-year-old, azoospermic, but otherwise healthy male.


METHODS
Lymphocytic karyotype and genetic counseling.


METHODS
Metaphases were studied by standard G- and Q-banding, followed by fluorescence in situ hybridization (FISH) and polymerase chain reaction to analyze specific Y chromosome regions.


RESULTS
Chromosomal analysis and FISH allowed us to define the propositus's karyotype as 45,X/46,X,idic(Yp)/46,XY (71%, 26%, and 3% of analyzed metaphases, respectively). Molecular analysis of azoospermic factor (AZF) regions showed deletion of AZFb and AZFc.


CONCLUSIONS
A 45,X/46,X,idic(Yp) mosaicism is associated with a very broad spectrum of phenotypes, including patients with Ullrich-Turner syndrome, patients with various degrees of genital ambiguity, or normal males. In the presence of a normal masculinization in otherwise healthy males azoospermia is a distinct feature that can be explained by partial deletion of AZF regions.
Valetto
Angelo
A
Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.
Bertini
Veronica
V
Rapalini
Erika
E
Baldinotti
Fulvia
F
Di Martino
Daniela
D
Simi
Paolo
P
D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D012729:Sex Chromosome Aberrations