Linked Life Data

8532623

Source:http://linkedlifedata.com/resource/pubmed/id/8532623

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1996-1-31
pubmed:abstractText
Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant women requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
633-40
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
pubmed:affiliation
Sackler School of Medicine, Tel Aviv University, Sapir Medical Center, Israel.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't