Prenatal diagnosis of werdnig‐hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers
1994; Wiley; Volume: 14; Issue: 3 Linguagem: Inglês
10.1002/pd.1970140314
ISSN1097-0223
AutoresT. Matilla, Javier Corral, Merce Miranda, Juan Troyano, Karen Morrison, V. Volpini, Xavier Estivill,
Tópico(s)RNA modifications and cancer
ResumoAbstract 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.
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