Linked Life Data

2710742

Source:http://linkedlifedata.com/resource/pubmed/id/2710742

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1989-5-26
pubmed:abstractText
Chorionic villus samples with copper contents of 1.91, 4.2, 5.6, and 6.3 ng/mg were observed in four cases with male karyotypes. These values were outside the range for unaffected males (0.30-0.85 ng/mg), and three of them were outside the control range (0.20-2.39 ng/mg). But these three values were below the values previously observed for affected Menkes fetuses (12.0-24.8 ng/mg). Follow-up by 64Cu uptake studies on the amniotic fluid cells was performed in three of these cases. A combination of 64Cu uptake and chase experiments on the amniotic fluid cells showed more convincingly than 64Cu uptake per se the direct copper values of 4.2 and 5.6 ng/mg to correspond to affected fetuses. Amniotic fluid cells from the male fetus with the CV copper value of 1.9 ng/mg showed normal results. The CV copper value of 6.3 ng/mg was considered pathognomonic for Menkes disease. The pregnancy was terminated, and the diagnosis was confirmed on fetal fibroblasts. Maternal deciduum prepared from the placentae showed in one of the cases with an affected fetus copper values ranging from 1.5 to 5.7 ng/mg. In six additional diagnostic cases, the copper content was determined in both CV samples and maternal deciduum. In three of these cases with normal CV sample copper, maternal decidua values of 4.85-7.8 ng/mg copper were observed. These results show that maternal deciduum contamination of a CV sample could cause a false-positive diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
159-65
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
First-trimester diagnosis of Menkes disease: intermediate copper values in chorionic villi from three affected male fetuses.
pubmed:affiliation
John F. Kennedy Institute, Glostrup, Denmark.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't