title: Non-Robertsonian translocation t (2;11) is associated with infertility in an oligospermic man.
abstract: Infertility is a major health problem which affects approximately 22% of married couples in reproductive age. Chromosomal defects are the most common genetic abnormalities in infertile men, with an incidence of cytogenetic abnormalities ranging from 2.1% to 15.5%. We describe here the clinical and cytogenetic studies carried out in a couple with repeated abortions. Cytogenetic analysis of the couple showed a de novo chromosomal translocation t (2;11)(p14;q21) in the male partner and a normal 46, XX karyotype in the female counterpart. Such an autosomal translocation may lead to the disruption of genes responsible for spermatogenesis or impaired synaptic complex pairing during meiosis resulting in reproductive failure.
authors.affiliation: Department of Cell Biology, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
authors.forename: V
authors.initials: V
authors.lastname: Ananthapur
authors.forename: S
authors.initials: S
authors.lastname: Avvari
authors.forename: K
authors.initials: K
authors.lastname: Veena
authors.forename: M
authors.initials: M
authors.lastname: Sujatha
authors.forename: A
authors.initials: A
authors.lastname: Jyothy
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D011247:Pregnancy; D014178:Translocation, Genetic
keywords: Karyotype; male infertility; non-Robertsonian translocation; oligozoospermia