X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+).
A family demonstrating short arm deletion of the X chromosome as a consequence of X-16 balanced translocation in the mother is reported. The two Xp- sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X-16 interchange. Literature data of 37 additional cases of verified X translocations are discussed.
D000293:Adolescent; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D010375:Pedigree; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*