Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3) (q26;q13.2).
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.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D008540:Meiosis; D009845:Oligospermia / Q000235:genetics*; D010375:Pedigree; D013091:Spermatogenesis; D013094:Spermatozoa / Q000166:cytology; D013737:Testis / Q000166:cytology; D014178:Translocation, Genetic; D014960:X Chromosome