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

doi:10.1002/pd.1970140314

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

Prenat Diagn. 1994 Mar;14(3):219-22. doi: 10.1002/pd.1970140314.

Authors

T Matilla¹, J Corral, M Miranda, J Troyano, K Morrison, V Volpini, X Estivill

Affiliation

¹ Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalunya, Spain.

PMID: 8052572
DOI: 10.1002/pd.1970140314

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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*

Substances

DNA, Satellite
Genetic Markers