Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques
Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitativ...
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| Veröffentlicht in: | Cytogenetic and genome research 2012-01, Vol.136 (1), p.6-14 |
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| container_title | Cytogenetic and genome research |
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| creator | Yu, S. Fiedler, S.D. Brawner, S.J. Joyce, J.M. Zhou, X.G. Liu, H.Y. |
| description | Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR). Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs |
| doi_str_mv | 10.1159/000334271 |
| format | Article |
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Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs</description><identifier>ISSN: 1424-8581</identifier><identifier>EISSN: 1424-859X</identifier><identifier>DOI: 10.1159/000334271</identifier><identifier>PMID: 22123409</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Child ; Chromosome Aberrations ; Chromosome Banding - methods ; Euchromatin - genetics ; Humans ; In Situ Hybridization, Fluorescence - methods ; Microarray Analysis - methods ; Original Article ; Real-Time Polymerase Chain Reaction - methods</subject><ispartof>Cytogenetic and genome research, 2012-01, Vol.136 (1), p.6-14</ispartof><rights>2011 S. Karger AG, Basel</rights><rights>Copyright © 2011 S. Karger AG, Basel.</rights><rights>Copyright (c) 2012 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c364t-8a32a227f78004ac37c8fb3aa1e38159afca8a10fca1564c8db74cb59bf211bb3</citedby><cites>FETCH-LOGICAL-c364t-8a32a227f78004ac37c8fb3aa1e38159afca8a10fca1564c8db74cb59bf211bb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,2423,4010,27904,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22123409$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yu, S.</creatorcontrib><creatorcontrib>Fiedler, S.D.</creatorcontrib><creatorcontrib>Brawner, S.J.</creatorcontrib><creatorcontrib>Joyce, J.M.</creatorcontrib><creatorcontrib>Zhou, X.G.</creatorcontrib><creatorcontrib>Liu, H.Y.</creatorcontrib><title>Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques</title><title>Cytogenetic and genome research</title><addtitle>Cytogenet Genome Res</addtitle><description>Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR). 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Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs</description><subject>Child</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Banding - methods</subject><subject>Euchromatin - genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence - methods</subject><subject>Microarray Analysis - methods</subject><subject>Original Article</subject><subject>Real-Time Polymerase Chain Reaction - methods</subject><issn>1424-8581</issn><issn>1424-859X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqF0b1LxDAYBvAgih-ng7tIcBGH07xJ2iajFL9AcfAEFylvY-pF2-ZMWkT_envceYOL05vhlye8eQjZB3YKkOgzxpgQkmewRrZBcjlWiX5aX50VbJGdGN8YAyWTdJNscQ5cSKa3yXM-xYCms8F9u_aVPjRY1_Shn9nQ9o0NGL7oHYZ3G2g-Db7x0Tc20k_XTWnum9K12DnfUl_Ru77u3Ky2dGLNtHUfvY27ZKPCOtq95RyRx8uLSX49vr2_usnPb8dGpLIbKxQcOc-qTDEm0YjMqKoUiGCFGhbEyqBCYMOAJJVGvZSZNGWiy4oDlKUYkeNF7iz4-btd0bhobF1ja30fC81TpbQWyf8SlBYCRDbIoz_yzfehHdYodCoSYErP404WyAQfY7BVMQuuGT6tAFbMuylW3Qz2cBnYl419WcnfMgZwsADvGF5tWIHl_R8G55K_</recordid><startdate>201201</startdate><enddate>201201</enddate><creator>Yu, S.</creator><creator>Fiedler, S.D.</creator><creator>Brawner, S.J.</creator><creator>Joyce, J.M.</creator><creator>Zhou, X.G.</creator><creator>Liu, H.Y.</creator><general>S. 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Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>22123409</pmid><doi>10.1159/000334271</doi><tpages>9</tpages></addata></record> |
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| subjects | Child Chromosome Aberrations Chromosome Banding - methods Euchromatin - genetics Humans In Situ Hybridization, Fluorescence - methods Microarray Analysis - methods Original Article Real-Time Polymerase Chain Reaction - methods |
| title | Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques |
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