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, Xavier P. Estivill

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 - 1994
Externally publishedYes

Fingerprint

Spinal Muscular Atrophy
Umbilical Cord
Prenatal Diagnosis
Microsatellite Repeats
DNA
Genes
Fetus
Chromosomes

Keywords

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

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Cite this

Prenatal diagnosis of werdnig‐hoffmann disease : DNA analysis of a mummified umbilical cord using closely linked microsatellite markers. / Matilla, T.; Corral, J.; Miranda, M.; Troyano, J.; Morrison, K.; Volpini, V.; Estivill, Xavier P.

In: Prenatal Diagnosis, Vol. 14, No. 3, 1994, p. 219-222.

Research output: Contribution to journalArticle

Matilla, T. ; Corral, J. ; Miranda, M. ; Troyano, J. ; Morrison, K. ; Volpini, V. ; Estivill, Xavier P. / Prenatal diagnosis of werdnig‐hoffmann disease : DNA analysis of a mummified umbilical cord using closely linked microsatellite markers. In: Prenatal Diagnosis. 1994 ; Vol. 14, No. 3. pp. 219-222.
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