Article
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
Human molecular genetics - 1 May 1993
Weksberg R, Teshima I, Williams B R, Greenberg C R, Pueschel S M, Chernos J E, Fowlow S B, Hoyme E, Anderson I J, Whiteman D A
Abstract excerpt
To define the region of 11p15 involved in Beckwith-Wiedemann syndrome (BWS), we have carried out a molecular genetic analysis of six patients with features of BWS and constitutional cytogenetic abnormalities involving chromosome band 11p15. Molecular analysis confirmed the 11p origin of the dupli...
Topics
- Beckwith-Wiedemann Syndrome
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Cytogenetics
- Fathers
- Female
- Humans
- Male
- Mothers
- Multigene Family
- Phenotype
- Translocation, Genetic