Document Detail


Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
MedLine Citation:
PMID:  8487268     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Ultrasonography is a non-invasive method for prenatal detection of diastrophic dysplasia (DTD) in the second trimester of pregnancy. As there is a need for genetic counselling as early as possible we wished to develop a method based on molecular analysis. Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. The DNA analyses predicted that three of the fetuses were unaffected and two affected. These results were concordant with those obtained by ultrasonography, and the phenotype of the fetus was correctly predicted in all cases. DNA analysis provides a reliable means of prenatal diagnosis in the first trimester of pregnancy.
Authors:
J Hästbacka; R Salonen; P Laurila; A de la Chapelle; I Kaitila
Related Documents :
15292918 - Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.
2678538 - A decade of mid-trimester amniocentesis in johannesburg. prenatal diagnosis, problems a...
3934658 - Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic flui...
20113288 - Attitude toward prenatal diagnosis for beta-thalassemia major and medical abortion in s...
18570208 - Is severe macrosomia manifested at 11-14 weeks of gestation?
14560948 - Tor: the first 10 years.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  30     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1993 Apr 
Date Detail:
Created Date:  1993-06-10     Completed Date:  1993-06-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  265-8     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, University of Helsinki, Finland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Base Sequence
DNA / genetics*
DNA Probes
Exostoses, Multiple Hereditary / diagnosis*,  genetics*
Female
Genetic Markers
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis*
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers; 9007-49-2/DNA
Comments/Corrections

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


Previous Document:  Design and synthesis of 18F-labeled neurotoxic analogs of MPTP.
Next Document:  Possible X linked congenital mitochondrial cardiomyopathy in three families.