Chromosome 2q24 microdeletion syndrome
Alternate names
2q24 microdeletion syndrome; Deletion 2q24; Monosomy 2q24; 2q24 deletion
Definition
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
NIH genetic and rare disease info
Chromosome 2q24 microdeletion syndrome is a rare disease.
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