6533b7d0fe1ef96bd125a4cd
RESEARCH PRODUCT
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Peter LorenzSuying XuSusanna BungeCordula SteglichAndreas GalJohn J. HopwoodMichael Becksubject
Malemedicine.medical_specialtyHeterozygoteX ChromosomeMucopolysaccharidosisDNA Mutational AnalysisPrenatal diagnosisIduronate SulfataseGene mutationBiologyPregnancyInternal medicinePrenatal DiagnosismedicineMissense mutationHumansPoint MutationMucopolysaccharidosis type IIGenetics (clinical)AllelesSex Chromosome AberrationsMucopolysaccharidosis IIGeneticsPoint mutationGenetic Carrier ScreeningObstetrics and GynecologyHunter syndromeDNAmedicine.diseaseFetal DiseasesEndocrinologyKaryotypingFemaleKlinefelter syndromedescription
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 addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1994-09-01 | Prenatal diagnosis |