Abstract
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.
Original language | English |
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Pages (from-to) | 777-780 |
Number of pages | 4 |
Journal | Prenatal Diagnosis |
Volume | 14 |
Issue number | 9 |
DOIs | |
Publication status | Published - Sep 1994 |
Keywords
- Hunter syndrome
- Klinefelter syndrome
- Mucopolysaccharidosis
- mutation detection
- prenatal diagnosis
ASJC Scopus subject areas
- Obstetrics and Gynaecology
- Genetics(clinical)