Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation |
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| Authors: | Dr Susanna Bunge Cordula Steglich Peter Lorenz Michael Beck Suying Xu John J Hopwood Andreas Gal |
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| Institution: | 1. Institut für Humangenetik, Medizinische Universität, Lübeck, Germany;2. Institut für Klinische Genetik, Medizinische Akademie, Dresden, Germany;3. Kinderklinik der Universität, Mainz, Germany;4. Department of Chemical Pathology, Adelaide Children's Hospital, North Adelaide, Australia |
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| 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. |
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| Keywords: | Mucopolysaccharidosis Hunter syndrome Klinefelter syndrome mutation detection prenatal diagnosis |
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