Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities

BackgroundCentral nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.Case presentationWe report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.ConclusionsThis report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

• Publication year

  2015

• Venue

  Molecular Cytogenetics

• Publication date

  2015-12-30

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1186/s13039-015-0200-1PMID 26719767PMCID 4696335
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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