A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19P.
In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
D002675:Child, Preschool; D002871:Chromosome Banding; D002903:Chromosomes, Human, 19-20; D002906:Chromosomes, Human, 6-12 and X; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D010375:Pedigree; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*