ArticleInternal medicine (Tokyo, Japan)2025
X-linked Intellectual Disability with Novel Chromosome 9p12-pter Unbalanced Translocation on Chromosome Xp.
Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Abnormalities in genes on the X chromosome or large defects in the X chromosome itself cause X-linked intellectual disability. The proband was a 27-year-old man. His medical history included strabismus, cryptorchidism, and severe intellectual disabilities. He also had epilepsy. His mother seemed to have slight intellectual disability. A physical examination revealed malformations. The lateral and fourth ventricles were dilated using computed tomography. CGG repeats in the 5' untranslated region of FMR1 gene were normal. G-banding and spectral karyotyping revealed a novel unbalanced X-autosomal translocation, with a karyotype of 46,Y,der(X)t(X;9)(p22.33;p12); distal trisomy of 9p and distal Xp nullisomy.
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