Linked Life Data

1809239

Source:http://linkedlifedata.com/resource/pubmed/id/1809239

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3-4
pubmed:dateCreated
1992-5-21
pubmed:abstractText
We report the case of a 17 year old girl with severe microcephaly and mental retardation, in whom karyotype analysis of PHA-stimulated lymphocytes, cultured skin fibroblasts, direct and cultured bone marrow and EBV-transformed lymphoblasts all showed at least 10% of cells with trisomy, which could be for many different chromosomes. All trisomies except 5, 10, 13, 14 and 17 were observed. Tissue-specific differences in the predominant trisomy occurred. The existence of this mosaic trisomy in four different tissues and in repeated cultures over a three year period suggests that it is due to a genetic abnormality resulting in mitotic instability. This case is compared with six previously reported human cases with a similar phenomenon, including two pairs of siblings. It is unclear whether all cases represent the same condition, since clinical and cytogenetic differences exist among them. The term "mosaic variegated aneuploidy with microcephaly" is suggested as a descriptive term for this syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
287-92
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?
pubmed:affiliation
Department of Pediatrics, Columbia University, New York, NY 10032.
pubmed:publicationType
Journal Article, Case Reports