Document Detail


Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers.
MedLine Citation:
PMID:  8052572     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
T Matilla; J Corral; M Miranda; J Troyano; K Morrison; V Volpini; X Estivill
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  14     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1994 Mar 
Date Detail:
Created Date:  1994-09-08     Completed Date:  1994-09-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  219-22     Citation Subset:  IM    
Affiliation:
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalunya, Spain.
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
DNA, Satellite / analysis*
Female
Genetic Markers
Humans
Linkage (Genetics)*
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*
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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