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- Kengo Maeda and Yoshiko Sugihara.
- Department of Neurology, National Hospital Organization Higashi-ohmi General Medical Center, Japan.
- Intern. Med. 2024 Sep 27.
AbstractAbnormalities 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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