An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.
A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely.
Bartels
Iris
I
Institute of Human Genetics, University of Goettingen, Heinrich-Dueker-Weg 12, D-37073 Goettingen, Lower Saxonia, Germany. ibartel@gwdg.de
Starke
Heike
H
Argyriou
Loukas
L
Sauter
Simone M
SM
Zoll
Barbara
B
Liehr
Thomas
T
D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D019457:Chromosome Breakage; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D002893:Chromosomes, Human, Pair 3; D002899:Chromosomes, Human, Pair 9; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D010641:Phenotype; D011995:Recombination, Genetic