Distal duplication 22q

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Synonyms: Distal trisomy 22q | Telomeric duplication 22q | Trisomy 22qter

Distal trisomy 22q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay pre- and postnatal growth deficiency hypotonia and craniofacial dysmorphism (incl. microcephaly hypertelorism narrow and upslanted palpebral fissures epicanthic folds low-set dysplastic ears broad and depressed nasal bridge cleft lip an/or palate long philtrum retro/micrognathia). Congenital heart defects as well as cerebral skeletal renal and genital anomalies have also been reported.

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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Distal duplication 22q?

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