Article
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
American journal of human genetics - 1 Sept 1997
Shapira S K, McCaskill C, Northrup H, Spikes A S, Elder F F, Sutton V R, Korenberg J R, Greenberg F, Shaffer L G
Abstract excerpt
Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has m...
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Craniofacial Abnormalities
- Female
- Growth Disorders
- Humans
- Infant
- Infant, Newborn
- Male
- Monosomy