Recombinant 8 syndrome
Recombinant 8 syndrome
Definition
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.
Also known as Duplication 8q/deletion 8p, Rec(8) syndrome, Rec8 syndrome, Recombinant chromosome 8 syndrome, San Luis Valley syndrome — per MONDO