Article
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Prenatal diagnosis - 1 Sept 1994
Bunge S, Steglich C, Lorenz P, Beck M, Xu S, Hopwood J J, Gal A
Abstract excerpt
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In...
Topics
- Alleles
- DNA
- DNA Mutational Analysis
- Female
- Fetal Diseases
- Genetic Carrier Screening
- Heterozygote
- Humans
- Iduronate Sulfatase
- Karyotyping
- Male
- Mucopolysaccharidosis II
- Point Mutation
- Pregnancy
- Prenatal Diagnosis
- Sex Chromosome Aberrations
- X Chromosome