Distal duplication 20q
Synonyms: Distal trisomy 20q | Telomeric duplication 20q | Trisomy 20qter
Distal trisomy 20q is a rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 20 with high phenotypic variability mostly characterized by neurodevelopmental delay cardiac malformations (e.g. ventricular septal defect coarctation of aorta) and facial dysmorphism (incl. large/high forehead microphthalmia upslanting palpebral fissures epicanthus large long low-set ears anteverted nares protruding upper lip cleft lip/palate micro/retrognathia dimpled chin). Skeletal (brachydactyly scoliosis pectus excavatum) and cerebral anomalies have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Distal duplication 20q?
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