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2q24 microdeletion syndrome

Orpha number ORPHA1617
Synonym(s) Del(2)(q24)
Monosomy 2q24
Prevalence <1 / 1 000 000
Inheritance Not applicable
Unknown
Age of onset Neonatal
ICD-10
  • Q93.5
ICD-O -
OMIM -
UMLS
  • C2931816
MeSH
  • C538316
MedDRA -

Summary

Deletion of 2q24,i.e. the loss of a small but specific region of the long arm of chromosome 2 forms a clinically recognizable syndrome. Twenty-three cases are known from the literature. Several symptoms are commonly seen in patients with chromosome aberrations, such as low birth weight, growth retardation, mental retardation, and low and malformed ears. However, the eye anomalies (coloboma, cataract and microphthalmia), anomalies of hands and feet (flexion deformities) and the congenital heart defects are more specific features, and are especially important in recognizing the clinical phenotype.

Expert reviewer(s)

  • Saskia MAAS

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