Distal duplication 6q

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Synonyms: Distal trisomy 6q | Telomeric duplication 6q | Trisomy 6qter

Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6 with highly variable phenotype typically characterized by growth and developmental delay intellectual disability craniofacial dysmorphism (microcephaly flat facial profile frontal bossing hypertelorism downward-slanting palpebral fissures flat nasal bridge anteverted nares bow shaped mouth micrognathia) short webbed neck and joint contractures. Cardiac urogenital ophthalmologic and hand and foot anomalies as well as umbilical hernia spasticity and seizures are other features that have 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 6q?

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