Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea.
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, to new minimal limits C-D.
D000328:Adult; D000568:Amenorrhea / Q000209:etiology* / Q000235:genetics; D001345:Autoradiography; D002869:Chromosome Aberrations / Q000150:complications; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000150:complications*; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000150:complications*; D014960:X Chromosome