Article
Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.
American journal of medical genetics - 15 Apr 1994
Barber J C, James R S, Patch C, Temple I K
Abstract excerpt
We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribut...
Topics
- Abnormalities, Multiple
- Agenesis of Corpus Callosum
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Inversion
- Chromosomes, Human, Pair 8
- Clubfoot
- Female
- Humans
- Infant, Newborn
- Intellectual Disability
- Multigene Family
- Phenotype
- Scoliosis