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Case Reports
. 1980 Jun;17(3):216-21.
doi: 10.1136/jmg.17.3.216.

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review

N J Carpenter, B Say, D Browning
Case Reports

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review

N J Carpenter et al. J Med Genet. 1980 Jun.

Abstract

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.

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References

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