Linked Life Data

9706338

Source:http://linkedlifedata.com/resource/pubmed/id/9706338

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1998-9-17
pubmed:abstractText
We describe the combined use of comparative genomic hybridization (CGH) and fluorecence in situ hybridization (FISH) to identify the origin of de novo unbalanced translocations in a fetus with abnormalities on ultrasound examination and in a newborn with multiple congenital abnormalities. RHG banding of amniocytes and lymphocytes respectively showed a unbalanced karyotype: 46,XX,add(4)(q34), with normal parental karyotypes in both cases. CGH revealed a gain of material from distal 15q (q23qter) in the fetus and a gain of distal 7q (q31qter) in the newborn. CGH results were confirmed using FISH with painting probes in both cases. These cases demonstrate the efficiency of CGH in identifying the chromosomal origin of extramaterial in unbalanced de novo translocations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
83-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Characterization of two add(4qter) chromosomes by comparative genomic hybridization.
pubmed:affiliation
Department of Medical Genetics, University Hospital, Nantes, France.
pubmed:publicationType
Journal Article, Case Reports