A Newly Identified Int22h1/Int22h2-Mediated Xq28 Duplication Syndrome Case Misdiagnosed as Cerebral Palsy

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Abstract

Cerebral palsy (CP) is a nonprogressive, early-onset neurodevelopmental disorder affecting ∼2 to 3/1,000 children worldwide. It is characterized by movement/postural disabilities accompanied by sensitive, perceptual, cognitive, communicational, behavioral, and musculoskeletal perturbations. Many CP patients are thought to have genetic etiologies overlapping those of other neurodevelopmental conditions. Herein, we reported a newly discovered case (the 36th case to date) of a female patient (misdiagnosed with CP until age 19) with the rare X-linked intellectual disability syndrome resulting from an int22h1/int22h2-mediated Xq28 duplication. A microarray analysis revealed a ∼0.4 Mb duplication within the 154.1 to 154.6 Mb subregion of Xq28 (hg19, CRCh37), confirming a diagnosis of the rare int22h1/int22h2-mediated Xq28 duplication intellectual disability syndrome. Atypical T2 hyperintensities were also observed. This case report builds upon the limited cohort of X-linked intellectual disability syndrome patients and reiterates the growing observations pertaining to the phenotypic overlap between genetic CP cases and other neurodevelopmental disorders.

Original languageEnglish
JournalJournal of Pediatric Neurology
DOIs
Publication statusE-pub ahead of print - Mar 2022

Keywords

  • cerebral palsy
  • chromosomal anomaly
  • chromosomal microarray analysis
  • gene dosage
  • X-linked intellectual disability

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