Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization.
OBJECTIVE
To determine the incidence of sex chromosome aneuploidy in the sperm of two men with a 47,XYY/46,XY karyotype.


METHODS
Case report.


METHODS
Infertility clinic in a teaching hospital.


METHODS
One patient with near normal semen parameters whose wife had a history of miscarriages and one patient with primary infertility and severe oligoasthenozoospermia.


METHODS
Cytogenetic analysis of peripheral lymphocytes and three-color X/Y/18 fluorescence in situ hybridization analysis of sperm.


METHODS
Analysis of sex chromosome disomy and diploidy rates in sperm.


RESULTS
Both patients had a 47,XYY/46,XY karyotype. The hyperdiploidy rate of patient 1 was 19% and that of patient 2 was 90%. The incidence of disomy XY was significantly elevated in both patients compared with the controls (0.23% and 1.02%, respectively, versus 0.10%). The incidence of disomy YY (0.44% versus 0.10%) was increased only in patient 2, as was the incidence of disomy 18 (0.49% versus 0.09%) and the rate of diploidy (0.83% versus 0.13%). The rate of 24,XX sperm in both patients was not different from that in the controls.


CONCLUSIONS
Patients with a 47,XYY mosaic karyotype may be at risk of producing offspring with a hyperdiploid sex constitution. These patients should have their sperm investigated by fluorescence in situ hybridization to determine their particular risks before they undergo intracytoplasmic sperm injection.
Lim
A S
AS
Department of Obstetrics and Gynecology, Singapore General Hospital, Singapore, Singapore. stalvinlim@hotmail.com
Fong
Y
Y
Yu
S L
SL
D000328:Adult; D000782:Aneuploidy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D009030:Mosaicism / Q000235:genetics; D009845:Oligospermia / Q000150:complications / Q000235:genetics; D013087:Spermatids; D013090:Spermatocytes; D013094:Spermatozoa / Q000002:abnormalities*; D014997:XYY Karyotype / Q000235:genetics*