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Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers.

Abstract
We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a decreased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11.2-13.3. The fetus was diagnosed as homozygous for the deleterious SMA gene.
AuthorsT Matilla, J Corral, M Miranda, J Troyano, K Morrison, V Volpini, X Estivill
JournalPrenatal diagnosis (Prenat Diagn) Vol. 14 Issue 3 Pg. 219-22 (Mar 1994) ISSN: 0197-3851 [Print] England
PMID8052572 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Satellite
  • Genetic Markers
Topics
  • Adult
  • Base Sequence
  • DNA, Satellite (analysis)
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis (methods)
  • Repetitive Sequences, Nucleic Acid
  • Spinal Muscular Atrophies of Childhood (diagnosis)
  • Umbilical Cord (chemistry)

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