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Article: Molecular cytogenetic analysis for a familial complex chromosomal rearrangement

TitleMolecular cytogenetic analysis for a familial complex chromosomal rearrangement
Authors
Qian, WPTan, YQTjia, WMSong, DGuan, XYLu, GX
KeywordsComplex chromosomal translocation
Microdissection
Multicolor fluorescence in situ hybridization
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
1003-9406
2023 SCImago Journal Rankings: 0.170
References
References in Scopus

 

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.subjectComplex chromosomal translocation-
dc.subjectMicrodissection-
dc.subjectMulticolor fluorescence in situ hybridization-
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
dc.identifier.issnl1003-9406-

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