Linked Life Data

2062820

Source:http://linkedlifedata.com/resource/pubmed/id/2062820

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1991-8-8
pubmed:abstractText
A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period between communication of the result and termination of pregnancy. Unexpectedly all cells after DP showed a normal male chromosome complement. Further investigations revealed mosaicism in trophoblast tissue and a normal karyotype in amniotic fluid cells and fetal blood (50 mitoses each). The parents elected to continue the pregnancy after extensive ultrasound examinations did not show suspicious findings. After the birth of a healthy child, cell cultures from ten different placental sites confirmed mosaicism. Four out of 100 mitoses from a lymphocyte culture showed an additional chromosome 21. The child had no dysmorphic features and the development was normal at the age of 10 weeks. This case demonstrates the restricted validity of prenatal cytogenetic analysis in the presence of true fetal mosaicism. It also stresses the benefit of our policy to offer a retap in cases with abnormal cytogenetic results prior to termination of pregnancy which is considered unnecessary by many cytogeneticists.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
133-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
'False-negative' and 'false-positive' prenatal cytogenetic results due to 'true' mosaicism.
pubmed:affiliation
Institut für Humangenetik, University of Münster, F.R.G.
pubmed:publicationType
Journal Article, Case Reports