Article
Natural history of the recombinant (8) syndrome.
American journal of medical genetics - 15 Sept 1993
Sujansky E, Smith A C, Prescott K E, Freehauf C L, Clericuzio C, Robinson A
Abstract excerpt
The recombinant 8[Rec(8)] syndrome [rec(8), (8qter-->8q22.1::8p23.1-->8qter] is due to a parental inv(8)(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...
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Inversion
- Chromosomes, Human, Pair 8
- Female
- Fetal Diseases
- Hispanic or Latino
- Humans