Article
[Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].
Klinische Padiatrie - 1 Jan 2000
Heber U, Müller C R
Abstract excerpt
Spinal muscular atrophy is one of the most common severe inherited diseases in childhood and especially the acute form of type I (Werdnig-Hoffmann) results in early death. Recently, all three types of childhood-onset SMA have been mapped to chromosome 5. Since then heterozygote detection in sibli...
Topics
- Chorionic Villi Sampling
- Chromosomes, Human, Pair 5
- DNA, Satellite
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Genetic Markers
- Humans
- Infant
- Infant, Newborn
- Male
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Repetitive Sequences, Nucleic Acid
- Spinal Muscular Atrophies of Childhood