The recombinant 8 (Rec(8)] syndrome (rec(8), (8qte-8q22.1::8p23.1-8qter] is due to a parental inv(8)(8pte-8p23.1::8q22.1-8p23.1::8q22.1-8qter).
All inv(8) parent 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 consistent in all published cases; however the natural history of the condition has remained unknown.
Retrospective and prospective information on 42 propositi, spanning a period from 5 days to 23 years, allowed us to define the natural history of this syndrome, tabulate the frequency and the evolution of phenotypic abnormalities, and share our experience with different therapeutic approaches.
Mots-clés Pascal : Chromosome C8 anormal, Chromosome anormal, Aberration chromosomique, Inversion chromosomique, Homme, Etude familiale, Epidémiologie, Phénotype, Symptomatologie, Recombinaison, Historique, Chromosome c8 recombinant syndrome
Mots-clés Pascal anglais : Abnormal C8 chromosome, Abnormal chromosome, Chromosomal aberration, Chromosome inversion, Human, Family study, Epidemiology, Phenotype, Symptomatology, Recombination, Case history
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0021380
Code Inist : 002B23B. Création : 199406.