Natural history of the recombinant (8) syndrome.
Am J Med Genet
; 47(4): 512-25, 1993 Sep 15.
Article
in En
| MEDLINE
| ID: mdl-8256815
ABSTRACT
The recombinant 8[Rec(8)] syndrome [rec(8), (8qter-->8q22.18p23.1-->8qter] is due to a parental inv(8)(8pter-->8p23.18q22.1-->8p23.18q22+ ++.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 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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Chromosomes, Human, Pair 8
/
Chromosome Aberrations
/
Chromosome Inversion
Type of study:
Observational_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Am J Med Genet
Year:
1993
Document type:
Article