Trisomy 8q

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Trisomy 8q

Synonyms: Duplication 8q

A partial autosomal trisomy characterized by developmental delay intellectual disability prenatal and postnatal growth retardation congenital heart genitourinary and skeletal anomalies and dysmorphic facial features including high and broad forehead hypertelorism upslanting palpebral fissures broad nose dysplastic and low set ears micrognathia. Phenotypic features vary in relation to the duplication size.

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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Trisomy 8q?

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