A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male.
OBJECTIVE
To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype.


METHODS
Case report with a review of the literature.


METHODS
Academic research environment.


METHODS
A man with oligospermia but otherwise apparently healthy.


METHODS
Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by the fluorescence in situ hybridization (FISH) procedure. Further characterization of the karyotype was done by using multicolor banding (MCB) probes.


METHODS
Physical examination, semen analysis, GTG banding, FISH, MCB.


RESULTS
The semen analysis revealed oligospermia. The lymphocytic karyotype detected an unusual complex chromosome rearrangement involving chromosomes 2, 13, and 18 determined by banding cytogenetics. Karyotype was established as 46,XY,t(2;13;18)ins(2;13)(2qter-->2p25.1::13q13-->13q22::18q12.3-->18qter;13pter-->13q13::2p25-->2pter;18pter-->18q12.3::13q22-->13qter) after MCB analysis.


CONCLUSIONS
The association of an unusual complex chromosome rearrangement with three recurrent spontaneous abortions was reported.
Ergul
Emel
E
Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey. ergulemel@yahoo.com
Liehr
Thomas
T
Mrasek
Kristin
K
Sazci
Ali
A
D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D003582:Cytogenetics; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*