Article
Chromosome imbalance, normal phenotype, and imprinting.
Journal of medical genetics - 1 Sept 1990
Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O
Abstract excerpt
A duplication of the sub-bands 1q42.11 and 1q42.12 was found in a boy and his mother. The proband has short stature (around the 10th centile) but a normal phenotype and psychomotor development. His mother is also asymptomatic. We found 30 published cases of normal subjects with an imbalance of autosomal euchromatic material. In these cases the imbalance involved either only one G positive band or a G positive and...
Topics
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 1
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Multigene Family
- Phenotype