Article
Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.
American journal of medical genetics - 13 Mar 1995
Kulharya A S, Roop H, Kukolich M K, Nachtman R G, Belmont J W, Garcia-Heras J
Abstract excerpt
We report on a girl with a de novo monosomy Xpter-->Xp22.3 and trisomy 3pter-->3p23, normal development and stature, mildly affected phenotype, and learning disabilities with a low normal level of intelligence. Late replication studies using BudR demonstrated that the entire der(X) was inactive in 30% of cells. In 62% of cells the inactivation did not spread to the autosomal segment in the der(X). The normal X...
Topics
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 3
- DNA
- Dosage Compensation, Genetic
- Female
- Genetic Markers
- Humans
- Monosomy