Distal duplication 13q
Synonyms: Distal trisomy 13q | Telomeric duplication 13q | Trisomy 13qter
Distal trisomy 13q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype principally characterized by intellectual disability psychomotor delay craniofacial dysmorphism (incl. microcephaly bushy eyebrows long curled eyelashes hypotelorism low-set ears prominent nasal bridge long philtrum high palate thin upper lip) short neck polydactyly and hemangiomas. Cardiac urogenital and neural tube defects as well as umbilical and inguinal hernias seizures and hypotonia 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 13q?
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