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 ≦0.324) apparently impair spermatogenesis.