Distal 22q11.2 microduplication syndrome

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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 July 2024

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