Article
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.
Human molecular genetics - 1 Jan 1994
Xuan J Y, Besner A, Ireland M, Hughes-Benzie R M, MacKenzie A E
Abstract excerpt
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked gigantism syndrome characterized primarily by a coarse facies and somatic overgrowth which we have observed to be associated with an increased risk for embryonal tumors. Genetic linkage analysis for two SGBS kindreds in which X linked dominant...
Topics
- Base Sequence
- Blotting, Southern
- Chromosome Mapping
- DNA
- DNA Primers
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Genetic Markers
- Genotype
- Gigantism
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Male
- Molecular Sequence Data
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
