Linked Life Data

11298685

Source:http://linkedlifedata.com/resource/pubmed/id/11298685

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-4-12
pubmed:abstractText
During a prospective prenatal study of numerical abnormalities of chromosomes 13, 18, 21, X and Y using locus-specific probes, we incidentally found a case with only one signal for chromosome 18 per cell in a chorionic villus sampling (CVS) associated with an otherwise apparently normal G-banded karyotype. This led us to discover a cryptic t(11;18) segregating in a four-generation family. The CVS was performed because of mental retardation in the brother to the father of the fetus. A subtelomeric chromosome 18 probe revealed one signal on 18qter and one on 11qter of the father. Thus the father had a balanced reciprocal t(11;18) in spite of the apparently normal G-banded karyotype. Using the same probes, we found an unbalanced translocation 46,XX,-18,+der (18)t(11;18)-(q25;q23)pat in the fetus. Further investigation of the family showed the translocation in balanced and unbalanced form in four generations in mentally normal and retarded individuals, respectively. The study emphasizes the need for a follow-up with molecular cytogenetic techniques in dysmorphic and retarded children.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
59
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
279-83
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH.
pubmed:affiliation
Cytogenetic Laboratory, Department of Clinical Genetics, Juliane Marie Center, Rigshospitalet, Copenhagen, Denmark.
pubmed:publicationType
Journal Article