title: Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family.
abstract: In this case report we present a family with infertile, azoospermic but otherwise apparently healthy males with history of recurrent spontaneous abortions (RSA) in females. Karyotype of the infertile man revealed a reciprocal balanced translocation t(8; 13) with breakpoints at 8q22 and 13p11.2. The reported reciprocal balanced translocation is associated with azoospermia. The same translocation is probably the cause of RSA in females of the family.
authors.affiliation: Victorian Clinical Genetics Services, Melbourne, Australia. him1997@gmail.com
authors.forename: H
authors.initials: H
authors.lastname: Goel
authors.forename: S R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000022:Abortion, Spontaneous / Q000453:epidemiology / Q000235:genetics*; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012008:Recurrence; D014178:Translocation, Genetic / Q000235:genetics*