Linked Life Data

8839890

Source:http://linkedlifedata.com/resource/pubmed/id/8839890

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-12-9
pubmed:abstractText
The nature and the origin of de novo small marker chromosome found at prenatal diagnosis were determined by fluorescence in situ hybridization (FISH) using chromosome centromere-specific probes and by chromosome in situ suppression (CISS) using chromosome specific libraries. The small marker was characterized as being derived from chromosome 22. The fetus which exhibited a minichromosome had kidney malformations and after birth showed clinical features consistent with the Duane anomaly. One previous case with Duane anomaly and abnormalities of urogenital tract associated to a bisatellitated marker derived from chromosome 22 was reported. These findings indicate that a gene or genes located in the region of chromosome 22pter-->q11 may be associated with the Duane anomaly and the development of the urogenital tract.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
168-72
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.
pubmed:affiliation
Servizio di Anatomia ed Istologia Patologica, Ospedale Multizonale, Varese, Italy.
pubmed:publicationType
Journal Article