Familial inv(1) (p3500q21.3) associated with azoospermia.
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.
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