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JABL: Translocation from an X chromosome to an autosome with a variable phenotype or lethality. Most unbalanced X-autosomal translocations result in multiple abnormalities; a smaller proportion cause gonadal dysgenesis without other anomalies or mental retardation. Females with balanced translocation may be fertile, suffer from gonadal dysgenesis, or have multiple congenital/mental retardation syndrome, mostly without gonadal dysfunction. Some are short and may or may not have menstrual disorders, small uterus, and aortic stenosis. X;6 chromosomal translocation was reported in a male in association with delayed development, sensorineural hearing loss, and craniofacial, urogenital, osteoarticular, and other abnormalities.
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