Recombinant 8 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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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PMID (PMCID)
23894102
FEMALE Adult
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
Vera-Carbonell A, Lopez-Gonzalez V, Bafalliu JA, Pinero-Fernandez J, Susmozas J, Sorli M, Lopez-Perez R, Fernandez A, Guillen-Navarro E, Lopez-Exposito I.
Am J Med Genet A. 2013;161A(9):2369-75.
San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies.