Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-5-24
pubmed:abstractText
Constitutional chromosomal mosaicism is the result of postfertilization mitotic error, the mechanism of which is not fully understood. The distribution of mosaicism in the conceptus depends on the timing, cell lineage(s) involved, cell viability, and chromosome involved. The developmental consequences of mosaicism also are related to its meiotic or somatic type. Meiotic mosaicism often is associated with a more severely adverse effect on the conceptus (see trisomy zygote rescue) due to the presence of uniparental disomy in the embryo/fetus and/or to dysfunction of a trisomic placenta. As mosaicism can be tissue specific, the result of a normal karyotype in cultured lymphocytes does not exclude the presence of mosaicism elsewhere in the conceptus. Mosaicism can best be detected by a combination of traditional cytogenetic analysis with molecular cytogenetic techniques such as comparative genomic hybridization and fluorescence in situ hybridization.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
6
pubmed:volume
91
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
39-45
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Pathogenesis of chromosomal mosaicism and its effect on early human development.
pubmed:affiliation
Cytogenetics Laboratory, Children's and Women's Health Centre, Vancouver, British Columbia, Canada. dkalousek@cw.bc.ca
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't