The X isochromosome-X syndrome [46,X,i(Xq)]. Report of three cases with review of the phenotype.
It is important not to confuse the 46,X,i(Xq) syndrome with the 45,X classical Turner's syndrome. There are profound cytogenetic and clinical differences between the two syndromes, which must be borne in mind in the differential diagnosis of amenorrhea and of infertility.
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis / Q000209:etiology; D002648:Child; D002875:Chromosomes; D003937:Diagnosis, Differential; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006130:Growth Disorders / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007247:Infertility, Female / Q000175:diagnosis / Q000209:etiology; D007621:Karyotyping; D008297:Male; D008599:Menstruation Disturbances / Q000175:diagnosis / Q000209:etiology; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014424:Turner Syndrome / Q000175:diagnosis