Reciprocal translocation t(7;16)(q21.2;p13.3) in an infertile man.
OBJECTIVE
To report the first case of reciprocal translocation t(7;16)(q21.2;p13.3) associated with male factor infertility.


METHODS
Case report.


METHODS
University genetics laboratory and university andrology unit.


METHODS
A 38-year-old man with infertility and oligoasthenoteratozoospermia, but otherwise healthy.


METHODS
Chromosome analyses from peripheral blood lymphocyte cultures using Giemsa (G)-banding (GTG) and C-banding (CBG) and fluorescent in situ hybridization (FISH) were performed.


METHODS
Sperm count, motility, morphology, GTG and CBG banding, and FISH.


RESULTS
We report an apparently unique reciprocal translocation t(7;16)(q21.2;p13.3) confirmed by FISH in an infertile man. Semen analyses showed oligoasthenoteratozoospermia, with sperm count ranging from 2 x 10(6)/mL to 5 x 10(6)/mL and head defects (98%) in sperm morphology.


CONCLUSIONS
In the present patient the breakpoint at 16p13.3 could have disrupted or harbored the PRM1, PRM2, or TNP2 genes responsible for the replacement of the histones involved in packaging the DNA into the sperm head. Resulting haploinsufficiency of these genes is likely to be the cause of sperm head defects and infertility in the patient. This case supports the opinion that alterations in the expression of protamine genes may be one of the causes of male factor infertility.
Mikelsaar
Ruth
R
Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.
Pauklin
Mikk
M
Lissitsina
Jelena
J
Punab
Margus
M
D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*