Distal duplication 19q
Synonyms: Distal trisomy 19q | Telomeric duplication 19q | Trisomy 19qter
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight developmental delay intellectual disability short stature craniofacial dysmorphism (incl. microcephaly midface hypoplasia hypertelorism flat nasal bridge ear anomalies short philtrum downturned corners of the mouth micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia skeletal anomalies (e.g. clino/camptodactyly) seizures and congenital cardiac urogenital and gastrointestinal malformations.
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 April 2024
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Distal duplication 19q?
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