title: Familial inv(1) (p3500q21.3) associated with azoospermia.
abstract: An inv(1) (p3500q21.3) was found in an azoospermic man, his mother and two other maternal relatives. Although the mechanisms involved are still unclear, it is stressed that pericentric inversions of chromosome 1 in which the inverted chromosome becomes submetacentric (centromeric index less than or equal to 0.324) apparently impair spermatogenesis.
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013737:Testis / Q000473:pathology