Article
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
American journal of human genetics - 1 May 1993
Kline A D, White M E, Wapner R, Rojas K, Biesecker L G, Kamholz J, Zackai E H, Muenke M, Scott C I, Overhauser J
Abstract excerpt
Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, cytogenetic, and molecular levels. The patients had varying degrees of typical clinical findings associated with the 18q- syndrome. Cytogenetic analysis revealed deletions from 18q21.3 or 18q2...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 18
- Female
- Gene Library
- Humans
- Hybrid Cells
- Karyotyping
- Male