Linked Life Data

11755102

Source:http://linkedlifedata.com/resource/pubmed/id/11755102

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-12-28
pubmed:abstractText
A 9-year-old female child of healthy parents (mother: 43 years, father: 44 years) was referred to our center because of severe mental retardation. While pedigree analysis was not contributory, two older sibs were normal and healthy. Physical examination revealed facial dysmorphism, microcephaly and hyperflexibility of all joints. Her chromosome constitution showed a mosaic pattern; mos 46,XX[98]/47,XX,+22[2]. So skin biopsy was performed and mosaic trisomy 22 was confirmed with FISH analysis (46,XX[73]/47,XX,+22[27]). Physical features of this case seemed consistent with her mosaic constitution. This report would be a demonstrative example to show the significant contribution of FISH in states of mosaicism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
183-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:articleTitle
A rare case: mosaic trisomy 22.
pubmed:affiliation
Osmangazi University, Medical Faculty, Department of Medical Genetics, Osmangazi University, Medical Faculty, TR-26480 Eski?ehir, Turkey. nbasaran@ogu.edu.tr
pubmed:publicationType
Journal Article, Case Reports