Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3) (q26;q13.2)

Abstract

A t(X;3) (q26;q13.2) was found in three generations of a family. Female carriers exhibited normal reproductive function, whereas all three postpuberal male carriers showed spermatogenesis arrest at meiosis I. Additionally, a 2 3/12-year-old girl had duplication 3qter resulting from an adjacent-1 segregation.