Distal 22q11.2 microduplication syndrome
Synonyms: Distal dup(22)(q11.2) | Distal trisomy 22q11.2
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with a highly variable phenotype principally characterized by developmental delay intellectual disability behavioral anomalies and non-specific craniofacial dysmorphism. Congenital heart malformations visual and hearing impairment urogenital abnormalities and seizures have also been reported. Penetrance is incomplete. In 70% of cases the duplication is inherited from as asymptomatic parent.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Distal 22q11.2 microduplication syndrome?
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Advocacy Organizations
Chromosome 22 Central
To spread awareness and offer support and information on all chromosome 22 disorders.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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