Article
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
Human molecular genetics - 1 Feb 1999
Wu Y Q, Heilstedt H A, Bedell J A, May K M, Starkey D E, McPherson J D, Shapira S K, Shaffer L G
Abstract excerpt
The deletion of chromosome 1p36 is a newly recognized, relatively common contiguous gene deletion syndrome with a variable phenotype. The clinical features have recently been delineated and molecular analysis indicates that the prevalence of certain phenotypic features appears to correlate with d...
Topics
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- DNA
- DNA Probes
- Genetic Markers
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Pedigree
- Phenotype
- Physical Chromosome Mapping