A cytogenetic survey of men being investigated for subfertility.
A study of 336 men attending a subfertility clinic but otherwise unselected, and a further 12 men studied as a part of the investigation of the female partner, revealed 10 with major chromosome anomaly and 3 with unambiguous chromosomal variants. In addition to those with sex chromosome aneuploidy, an extra, small marker chromosome and D/D Robertsonian translocations, anomalies which have been reported in other studies, there were 7 men with rearrangements, including a paracentric inversion of chromosome 7 and an X/21 reciprocal translocation. These would have been difficult or impossible to identify without good banded preparations, suggesting that such rearrangement may be more frequent in association with subfertility than was appreciated.
D000328:Adult; D002452:Cell Count; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000166:cytology; D014178:Translocation, Genetic