Article
Inverted distal duplication of the long arm of chromosome 8: borderline intelligence and discrete dysmorphic syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1991
Kleczkowska A, Fryns J P, Decock P, Van den Berghe H
Abstract excerpt
In this report, we describe an 11-years-old girl with inverted duplication in the distal part of the long arm of chromosome 8 (inv dup(8)(q24.11----q24.3). The most remarkable finding is her borderline intelligence and her nearly normal phenotype.
Topics
- Adult
- Child
- Chromosomes, Human, Pair 8
- Face
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Multigene Family
- Phenotype
- Trisomy