Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea

Abstract

Balanced translocations involving an X chromosome and an autosome have been infrequently reported. A patient with a balanced X-autosome translocation 46,X,rcp(X;4)(q26;q21) who exhibited early secondary amenorrhea and gonadal dysgenesis is described. In an effort to explain the varied phenotypic expressions encountered in female cases of balanced X-autosome translocations, evidence will be provided to suggest an extension of the minimal limits of the “critical region” in the long arm of the X chromosome from A-B, as described by Sarto and associates,7 to new minimal limits C-D.