NATURAL-HISTORY OF THE RECOMBINANT-(8) SYNDROME

The recombinant 8 [R-ec(8)] syndrome [rec(8), (8qter-->8q22.1::8p23.1- ->8qter] is due to a parental (8pter-->8p23.1::8q22.1-->8p23.1::8q22.1 -->8qter). All inv(8) parents we have studied were of Hispanic origin. The Rec(8) phenotype consists of a characteristic set of minor facial anomalies, cardiovascular and other major malformations, and moderate to severe mental retardation. The clinical phenotype is relatively co nsistent in all published cases; however the natural history of the co ndition has remained unknown. Retrospective and prospective informatio n on 42 propositi, spanning a period from 5 days to 23 years, allowed us to define the natural history of this syndrome, tabulate the freque ncy and the evolution of phenotypic abnormalities, and share our exper ience with different therapeutic approaches. (C) 1993 Wiley-Liss, Inc.