title: Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers.
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.
authors.affiliation: Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalunya, Spain.
authors.forename: T
authors.initials: T
authors.lastname: Matilla
authors.forename: J
authors.initials: J
authors.lastname: Corral
authors.forename: M
authors.initials: M
authors.lastname: Miranda
authors.forename: J
authors.initials: J
authors.lastname: Troyano
authors.forename: K
authors.initials: K
authors.lastname: Morrison
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000328:Adult; D001483:Base Sequence; D004276:DNA, Satellite / Q000032:analysis*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012091:Repetitive Sequences, Nucleic Acid; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis*; D014470:Umbilical Cord / Q000737:chemistry*
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers