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Article: Molecular cytogenetic analysis for a familial complex chromosomal rearrangement

TitleMolecular cytogenetic analysis for a familial complex chromosomal rearrangement
Authors
Issue Date2005
Citation
Chinese Journal Of Medical Genetics, 2005, v. 22 n. 3, p. 302-304 How to Cite?
AbstractObjective: To determine a complex chromosomal rearrangement by advanced molecular cytogenetic techniques and analyze its clinical effect. Methods: A complex chromosomal rearrangement (CCR) involved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined by chromosomal microdissection and multicolor fluorescence in situ hybridization (M-FISH) , and family degree investigation was further performed. Results: The karyotype of the case was a complex chromosomal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation. Conclusion: The combined use of M-FISH and chromosome microdissection is a powerful tool to determine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.
Persistent Identifierhttp://hdl.handle.net/10722/150792
ISSN
2015 SCImago Journal Rankings: 0.187
References

 

DC FieldValueLanguage
dc.contributor.authorQian, WPen_US
dc.contributor.authorTan, YQen_US
dc.contributor.authorTjia, WMen_US
dc.contributor.authorSong, Den_US
dc.contributor.authorGuan, XYen_US
dc.contributor.authorLu, GXen_US
dc.date.accessioned2012-06-26T06:10:34Z-
dc.date.available2012-06-26T06:10:34Z-
dc.date.issued2005en_US
dc.identifier.citationChinese Journal Of Medical Genetics, 2005, v. 22 n. 3, p. 302-304en_US
dc.identifier.issn1003-9406en_US
dc.identifier.urihttp://hdl.handle.net/10722/150792-
dc.description.abstractObjective: To determine a complex chromosomal rearrangement by advanced molecular cytogenetic techniques and analyze its clinical effect. Methods: A complex chromosomal rearrangement (CCR) involved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined by chromosomal microdissection and multicolor fluorescence in situ hybridization (M-FISH) , and family degree investigation was further performed. Results: The karyotype of the case was a complex chromosomal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation. Conclusion: The combined use of M-FISH and chromosome microdissection is a powerful tool to determine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.en_US
dc.languageengen_US
dc.relation.ispartofChinese Journal of Medical Geneticsen_US
dc.subject.meshAdulten_US
dc.subject.meshChromosomes, Human, Pair 10 - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 16 - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 20 - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 5 - Geneticsen_US
dc.subject.meshCytogenetic Analysis - Methodsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshMaleen_US
dc.subject.meshPregnancyen_US
dc.subject.meshTranslocation, Geneticen_US
dc.titleMolecular cytogenetic analysis for a familial complex chromosomal rearrangementen_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.pmid15952121-
dc.identifier.scopuseid_2-s2.0-20644443908en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-20644443908&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume22en_US
dc.identifier.issue3en_US
dc.identifier.spage302en_US
dc.identifier.epage304en_US
dc.identifier.scopusauthoridQian, WP=55106788500en_US
dc.identifier.scopusauthoridTan, YQ=7402139346en_US
dc.identifier.scopusauthoridTjia, WM=8631854600en_US
dc.identifier.scopusauthoridSong, D=36818288300en_US
dc.identifier.scopusauthoridGuan, XY=7201463221en_US
dc.identifier.scopusauthoridLu, GX=7403460237en_US

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