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Article: Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis

TitleCharacterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis
Authors
Issue Date1996
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1996, v. 98 n. 4, p. 396-402 How to Cite?
AbstractUnbalanced translocations are a frequent cause of multiple congenital anomalies in children. Translocations as small as 2-5 Mb of DNA are detectable by G-banding under optimal conditions. Some of these small translocations are visible but cannot be characterized cytogenetically due to the lack of characteristic banding on Giemsa preparations. We have combined chromosomal microdissection and fluorescence in situ hybridization (FISH) to identify the origin of a small translocated segment in three members of a family with a derivative chromosome 9 and multiple anomalies, including several ophthalmologic anomalies. We microdissected the abnormal region of the derivative 9 chromosome and used this DNA to generate a FISH probe. This probe hybridized to distal 1Op on the metaphase spread of the proband, indicating the origin of the translocated segment. A whole 10p FISH probe confirmed the origin by hybridizing to the translocated segment of the derivative chromosome. FISH was then performed with a whole chromosome 9 painting probe and excluded the presence of a reciprocal, balancing translocation. We then studied the chromosome 10 partial duplication with microsatellite markers to better characterize the chromosomal segment that caused these phenotypic features. By examining the involved areas with distal 1Op and 9p microsatellite markers, we were able to demonstrate a minimum of 9 Mb of trisomic 10p DNA with a chromosomal breakpoint between 10p14-10p15. We then compared this family's clinical findings to those of individuals with partial 10p trisomy who had been reported in the literature. The clinical phenotypes seen in this family are similar to, but milder than, the phenotypes of persons with the larger partial trisomies of 10p that were diagnosable by cytogenetic analysis alone. This study shows that microdissection and DNA markers can be used to precisely define small translocations that are difficult to identify by conventional G-banded chromosome analysis.
Persistent Identifierhttp://hdl.handle.net/10722/150721
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorStone, Den_US
dc.contributor.authorNing, Yen_US
dc.contributor.authorGuan, XYen_US
dc.contributor.authorKaiserKupfer, Men_US
dc.contributor.authorWynshawBoris, Aen_US
dc.contributor.authorBiesecker, Len_US
dc.date.accessioned2012-06-26T06:09:12Z-
dc.date.available2012-06-26T06:09:12Z-
dc.date.issued1996en_US
dc.identifier.citationHuman Genetics, 1996, v. 98 n. 4, p. 396-402en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttp://hdl.handle.net/10722/150721-
dc.description.abstractUnbalanced translocations are a frequent cause of multiple congenital anomalies in children. Translocations as small as 2-5 Mb of DNA are detectable by G-banding under optimal conditions. Some of these small translocations are visible but cannot be characterized cytogenetically due to the lack of characteristic banding on Giemsa preparations. We have combined chromosomal microdissection and fluorescence in situ hybridization (FISH) to identify the origin of a small translocated segment in three members of a family with a derivative chromosome 9 and multiple anomalies, including several ophthalmologic anomalies. We microdissected the abnormal region of the derivative 9 chromosome and used this DNA to generate a FISH probe. This probe hybridized to distal 1Op on the metaphase spread of the proband, indicating the origin of the translocated segment. A whole 10p FISH probe confirmed the origin by hybridizing to the translocated segment of the derivative chromosome. FISH was then performed with a whole chromosome 9 painting probe and excluded the presence of a reciprocal, balancing translocation. We then studied the chromosome 10 partial duplication with microsatellite markers to better characterize the chromosomal segment that caused these phenotypic features. By examining the involved areas with distal 1Op and 9p microsatellite markers, we were able to demonstrate a minimum of 9 Mb of trisomic 10p DNA with a chromosomal breakpoint between 10p14-10p15. We then compared this family's clinical findings to those of individuals with partial 10p trisomy who had been reported in the literature. The clinical phenotypes seen in this family are similar to, but milder than, the phenotypes of persons with the larger partial trisomies of 10p that were diagnosable by cytogenetic analysis alone. This study shows that microdissection and DNA markers can be used to precisely define small translocations that are difficult to identify by conventional G-banded chromosome analysis.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_US
dc.relation.ispartofHuman Geneticsen_US
dc.subject.meshAbnormalities, Multiple - Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 10en_US
dc.subject.meshChromosomes, Human, Pair 9en_US
dc.subject.meshDna Primersen_US
dc.subject.meshDna, Satellite - Geneticsen_US
dc.subject.meshEye Abnormalities - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshLymphocytesen_US
dc.subject.meshMaleen_US
dc.subject.meshMicrosatellite Repeats - Geneticsen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshPedigreeen_US
dc.subject.meshTranslocation, Geneticen_US
dc.subject.meshTrisomyen_US
dc.titleCharacterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysisen_US
dc.typeArticleen_US
dc.identifier.emailGuan, XY:xyguan@hkucc.hku.hken_US
dc.identifier.authorityGuan, XY=rp00454en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s004390050228en_US
dc.identifier.pmid8792811-
dc.identifier.scopuseid_2-s2.0-0029814318en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029814318&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume98en_US
dc.identifier.issue4en_US
dc.identifier.spage396en_US
dc.identifier.epage402en_US
dc.identifier.isiWOS:A1996VD82900002-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridStone, D=7403159452en_US
dc.identifier.scopusauthoridNing, Y=7102383425en_US
dc.identifier.scopusauthoridGuan, XY=7201463221en_US
dc.identifier.scopusauthoridKaiserKupfer, M=35556937900en_US
dc.identifier.scopusauthoridWynshawBoris, A=7005584467en_US
dc.identifier.scopusauthoridBiesecker, L=7005532738en_US

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