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. 1980 Jun;17(3):216–221. 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
PMCID: PMC1048550  PMID: 7401133

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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Selected References

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