[Genetic analysis of a complex chromosome rearrangement involving two chromosomes and four breakpoints in an azoospermic man].
OBJECTIVE
To perform genetic analysis of a complex chromosome rearrangement (CCR) 46,XY, t(3;11)(q27; q13), ins(11;3)(q13;p26p13) in an azoospermic man.


METHODS
Peripheral blood lymphocytes we re obtained for karyotyping, and metaphases were studied by multicolor fluorescence in situ hybridization procedure, Y chromosomal microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction.


RESULTS
The case was a complex chromosomal translocation between chromosomes 3 and 11 with four breakpoints, and accompanied with a band of chromosome 3 inserting into chromosome 11. No Y-chromosome microdeletions were identified at 6 STS sequences of the AZF loci.


CONCLUSIONS
CCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.
Department of Clinical Laboratory, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.
Yu-qin
YQ
Luo
Min
M
Shen
Yu-li
YL
Qian
Yu-lan
YL
Chen
Chen-ming
CM
Xu
Fan
F
Jin
D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D002893:Chromosomes, Human, Pair 3; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004247:DNA / Q000032:analysis; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic
D004247:DNA