title: The case of an infertile male with an uncommon reciprocal X-autosomal translocation: how does this affect male fertility?
abstract: Infertility is defined as the inability to conceive after one year of regular unprotected intercourse. Constitutional numerical and/or structural chromosomal aberrations like sex-chromosome aberrations are one of the possible factors involved in fertility problems. Reciprocal translocations between an X-chromosome and an autosome are rarely seen in men. Male carriers of an X-autosome translocation are invariably sterile, regardless of the position of the breakpoint in the X-chromosome. Breakpoints in autosomal chromosomes could also be involved in male infertility. In this paper, we describe a 31-year-old male with azoospermia. GTG banding with high resolution multicolor-banding (MCB) techniques revealed a karyotype 46,Y,t(X;1)(p22.3;q25), and we discuss how the breakpoint of this translocation could affect male infertility. As a conclusion, cytogenetic evaluation of infertile subjects with azoospermia should be considered in the first place before in vitro fertilisation procedures are planned.
authors.affiliation: Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara 06500, Turkey. kadrikaraer@yahoo.com
authors.forename: K
authors.initials: K
authors.lastname: Karaer
authors.forename: M A
authors.initials: MA
authors.lastname: Ergun
authors.forename: A
authors.initials: A
authors.lastname: Weise
authors.forename: E
authors.initials: E
authors.lastname: Ewers
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: N
authors.initials: N
authors.lastname: Kosyakova
authors.forename: H
authors.initials: H
authors.lastname: Mkrtchyan
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D041321:Chromosomes, Human, X; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics*; D014178:Translocation, Genetic; D014421:Turkey