Prenatal diagnosis of werdnig‐hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

T. Matilla, J. Corral, M. Miranda, J. Troyano, K. Morrison, V. Volpini, X. Estivill

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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 deceased 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.

Original languageEnglish
Pages (from-to)219-222
Number of pages4
JournalPrenatal Diagnosis
Volume14
Issue number3
DOIs
Publication statusPublished - Mar 1994

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Keywords

  • Werdnig‐Hoffmann
  • microsatellites
  • mummified umbilical cord
  • spinal muscular atrophy

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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