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Article: Origins of accessory small ring marker chromosomes derived from chromosome I

TitleOrigins of accessory small ring marker chromosomes derived from chromosome I
Authors
KeywordsChromosome painting
Microdissection
Ring chromosome 1
Issue Date1999
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 1999, v. 36 n. 11, p. 847-853 How to Cite?
AbstractThree patients with accessory small ring chromosomes derived from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissection of the r(1) chromosome and with a BAC923C6 which maps to 1p12. Results indicated that patients with r(1) chromosomes consisting of 1q12 heterochromatin and short arm pericentric euchromatin which extends to at least the BAC923C6 were associated with a normal or mild phenotype. Patients with abnormal phenotypes possessed two types of rings. One patient had evidence for contiguous pericentric short arm euchromatin which extended from the centromere to beyond the BAC923C6. Two patients showed molecular cytogenetic results which were compatible with non-contiguous chromosome 1 euchromatin. The diversity of origin of r(1)s will hamper attempts to define phenotype/genotype relationships.
Persistent Identifierhttp://hdl.handle.net/10722/42370
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCallen, DFen_HK
dc.contributor.authorEyre, Hen_HK
dc.contributor.authorFang, YYen_HK
dc.contributor.authorGuan, XYen_HK
dc.contributor.authorVeleba, Aen_HK
dc.contributor.authorMartin, NJen_HK
dc.contributor.authorMcGill, Jen_HK
dc.contributor.authorHaan, EAen_HK
dc.date.accessioned2007-01-29T08:48:01Z-
dc.date.available2007-01-29T08:48:01Z-
dc.date.issued1999en_HK
dc.identifier.citationJournal Of Medical Genetics, 1999, v. 36 n. 11, p. 847-853en_HK
dc.identifier.issn0022-2593en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42370-
dc.description.abstractThree patients with accessory small ring chromosomes derived from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissection of the r(1) chromosome and with a BAC923C6 which maps to 1p12. Results indicated that patients with r(1) chromosomes consisting of 1q12 heterochromatin and short arm pericentric euchromatin which extends to at least the BAC923C6 were associated with a normal or mild phenotype. Patients with abnormal phenotypes possessed two types of rings. One patient had evidence for contiguous pericentric short arm euchromatin which extended from the centromere to beyond the BAC923C6. Two patients showed molecular cytogenetic results which were compatible with non-contiguous chromosome 1 euchromatin. The diversity of origin of r(1)s will hamper attempts to define phenotype/genotype relationships.en_HK
dc.format.extent124441 bytes-
dc.format.extent25088 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_HK
dc.relation.ispartofJournal of Medical Geneticsen_HK
dc.rightsJournal of Medical Genetics. Copyright © B M J Publishing Group.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectChromosome paintingen_HK
dc.subjectMicrodissectionen_HK
dc.subjectRing chromosome 1en_HK
dc.subject.meshAbnormalities, multiple - geneticsen_HK
dc.subject.meshChromosomes, human, pair 1en_HK
dc.subject.meshRing chromosomesen_HK
dc.subject.meshChild, preschoolen_HK
dc.titleOrigins of accessory small ring marker chromosomes derived from chromosome Ien_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=36&issue=11&spage=847&epage=853&date=1999&atitle=Origins+of+accessory+small+ring+marker+chromosomes+derived+from+chromosome+1en_HK
dc.identifier.emailGuan, XY:xyguan@hkucc.hku.hken_HK
dc.identifier.authorityGuan, XY=rp00454en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid10544230-
dc.identifier.pmcidPMC1734252-
dc.identifier.scopuseid_2-s2.0-0032758343en_HK
dc.identifier.hkuros52961-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032758343&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume36en_HK
dc.identifier.issue11en_HK
dc.identifier.spage847en_HK
dc.identifier.epage853en_HK
dc.identifier.isiWOS:000083658200008-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridCallen, DF=7101835279en_HK
dc.identifier.scopusauthoridEyre, H=15024461800en_HK
dc.identifier.scopusauthoridFang, YY=7403457405en_HK
dc.identifier.scopusauthoridGuan, XY=7201463221en_HK
dc.identifier.scopusauthoridVeleba, A=6506100471en_HK
dc.identifier.scopusauthoridMartin, NJ=7401810296en_HK
dc.identifier.scopusauthoridMcGill, J=8320808200en_HK
dc.identifier.scopusauthoridHaan, EA=7006822529en_HK

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