title: Exceptional complex chromosomal rearrangement and microdeletions at the 4q22.3q23 and 14q31.1q31.3 regions in a patient with azoospermia.
abstract: In this report we describe the first patient ever found to have azoospermia in association with both exceptional complex chromosomal rearrangements and microdeletions at two translocation breakpoints. A 36-year-old male who had been suffering from male factor infertility was admitted to our clinic. The patient also displayed mild dysmorphia. An analysis of the patient's semen revealed azoospermia. GTG banding revealed the presence of an exceptional complex chromosomal rearrangement involving chromosomes 1, 4, 10 and 14. Using subtelomeric FISH analysis, the patient's karyotype was designated as 46,XY,t(1;10)(q43q44;q21q26.1)(CEB108/T7+,D1S3738-;10PTEL006+,D10S2290+, D1S3738+), ins(14;4) (q31.3;q23q33)(D14S1420+; D4S3359+, D4S2930+). Array-CGH analysis revealed two microdeletions at the 4q22.3q23 and 14q31.1q31.3 chromosomal regions. We suggest that microdeletions at the 4q22.3q23 and 14q31.1q31.3 chromosomal regions associated with both an exceptional complex chromosomal rearrangement and the Homo sapiens chromosome 4 open reading frame 37 (C4orf37) gene located at the 4q22.3q23 region might be associated with male factor infertility.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
authors.forename: Ozden Altiok
authors.initials: OA
authors.lastname: Clark
authors.forename: Mustafa Faruk
authors.initials: MF
authors.lastname: Usta
authors.forename: Sibel
authors.initials: S
authors.lastname: Berker
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
mesh_terms: D059786:Abnormal Karyotype; D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002879:Chromosomes, Human, Pair 10; D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D041322:Chromosomes, Human, Y; D055028:Comparative Genomic Hybridization; D006801:Humans; D008297:Male; D014178:Translocation, Genetic