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.
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Authors | T Matilla, J Corral, M Miranda, J Troyano, K Morrison, V Volpini, X Estivill |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 14
Issue 3
Pg. 219-22
(Mar 1994)
ISSN: 0197-3851 [Print] England |
PMID | 8052572
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Satellite
- Genetic Markers
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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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