Absence of sperm sex chromosome aneuploidies in an X0/XYY man.
OBJECTIVE
To determine appropriate genetic counseling of patients with a mosaic karyotype who wished to undergo assisted reproduction technology.


METHODS
Case report.


METHODS
A tertiary center for assisted reproduction technology.


METHODS
A male with a mosaic karyotype X0/XYY.


METHODS
Analysis of ejaculated spermatozoa by using fluorescence in situ hybridisation with probes directed against chromosomes X, Y, and 18.


METHODS
Degree of sex chromosome aneuploidies in spermatozoa.


RESULTS
Levels of sex chromosome aneuploidies in spermatozoa were normal. On the basis of these findings, the couple proceeded to assisted reproduction technology without preimplantation genetic diagnosis and conceived a healthy male baby.


CONCLUSIONS
Sex chromosome mosaicism in men does not necessarily lead to high levels of abnormal spermatozoa. Sex chromosome aneuploidies may be eliminated in the testes through the selective degeneration of abnormal spermatogenic cells.
Dale
Brian
B
Centre for Reproductive Biology, Clinica Villa del Sole, Naples, Italy.
Wilding
Martin
M
De Matteo
Loredana
L
Zullo
Fulvio
F
D000328:Adult; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009845:Oligospermia / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome; D014998:Y Chromosome