Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.
A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.
D000293:Adolescent; D002900:Chromosomes, Human, 1-3; D003878:Dermatoglyphics; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome