Linked Life Data

12707954

Source:http://linkedlifedata.com/resource/pubmed/id/12707954

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-4-22
pubmed:abstractText
The mentally normal mother of a 4-year-old boy with del(18)(q21.3) syndrome was tested cytogenetically to study the possibility of an inherited structural rearrangement of chromosome 18. She was found to carry an unusual mosaicism involving chromosomes 18 and 21. Two unbalanced cell lines were seen as derivatives of a reciprocal translocation t(18;21), resulting in mosaicism of two cell lines, one with partial monosomy 18q and one with partial trisomy 18q. A literature review revealed that mosaicism of two or more cell lines with different unbalanced structural aberrations is extremely rare; moreover, chromosome 18 appeared to be involved in the majority of cases. We discuss possible mechanisms for the origin of this distinctive chromosomal constitution.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
119A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
26-31
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved?
pubmed:affiliation
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. J.M.dePater@dmg.azu.nl
pubmed:publicationType
Journal Article, Case Reports