22q11.2 duplication syndrome

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Synonyms: 22q11.2 microduplication syndrome | Dup(22)(q11) | Duplication 22q11.2 | Trisomy 22q11.2

A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects urogenital abnormalities velopharyngeal insufficiency with or without cleft palate and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.

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 June 2024

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22q11.2 duplication syndrome?

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