Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

Susanna Bunge, Cordula Steglich, Peter Lorenz, Michael Beck, Suying Xu, John J. Hopwood, Andreas Gal

Research output: Contribution to journalArticle

10 Citations (Scopus)

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 languageEnglish
Pages (from-to)777-780
Number of pages4
JournalPrenatal Diagnosis
Volume14
Issue number9
DOIs
Publication statusPublished - Sep 1994

Keywords

  • Hunter syndrome
  • Klinefelter syndrome
  • Mucopolysaccharidosis
  • mutation detection
  • prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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