Work

X-linked Intellectual Disability with Novel Chromosome 9p12-pter Unbalanced Translocation on Chromosome Xp

Year: 2024

Type: article

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.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.4154-24

Authors: Kengo Maeda, Yoshiko Sugihara

Institution: National Hospital Organization Higashi-Ohmi General Medical Center

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4402884639

FWCI:

Cites: 5

Cited by:

Related to: 10