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

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...

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Veröffentlicht in:	Internal Medicine 2024, pp.4154-24
Hauptverfasser:	Maeda, Kengo, Sugihara, Yoshiko
Format:	Artikel
Sprache:	eng
Schlagworte:	9p trisomy X-autosomal translocation X-linked mental retardation Xp nullisomy
Online-Zugang:	Volltext
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