Recombinant 8 syndrome

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Synonyms: Duplication 8q/deletion 8p | Rec(8) syndrome | Rec8 syndrome | Recombinant chromosome 8 syndrome | San Luis Valley syndrome

Recombinant 8 (rec(8)) syndrome also known as San Luis Valley syndrome is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies urogenital malformations moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

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 July 2024

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Recombinant 8 syndrome?

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