An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

Abstract 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...

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Veröffentlicht in:	European journal of medical genetics 2007-03, Vol.50 (2), p.133-138
Hauptverfasser:	Bartels, Iris, Starke, Heike, Argyriou, Loukas, Sauter, Simone M, Zoll, Barbara, Liehr, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Azoospermia - genetics Balanced complex chromosome rearrangement Biological and medical sciences Chromosome aberrations Chromosome Breakage Chromosome Inversion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 9 Fluorescence in situ hybridization Fundamental and applied biological sciences. Psychology Gene Rearrangement General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans In Situ Hybridization, Fluorescence Infertility, Male - genetics Karyotyping Male Male infertility Medical Education Medical genetics Medical sciences Meiosis Molecular and cellular biology Molecular cytogenetics Multicolour banding Phenotype Recombination, Genetic
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Zusammenfassung:	Abstract 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.
ISSN:	1769-7212 1878-0849
DOI:	10.1016/j.ejmg.2006.10.007