De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes
About seven critical regions along the whole 18q have been proposed for Edwards syndrome (ES) / trisomy 18 (T18) phenotype (Boghosian-Sell et al. 1994; Nguyen-Minh et al. 2013). In contrast, hemizygosity for 18q22.3-18qter region has been linked to most of the features of 18q syndrome (Feenstra et a...
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| Veröffentlicht in: | Journal of genetics 2014-12, Vol.93 (3), p.869-873 |
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| creator | CÓRDOVA-FLETES, CARLOS SÁINZ-GONZÁLEZ, ENRIQUE AVENDAÑO-GÁLVEZ, ROBERTO IVÁN RAMÍREZ-VELAZCO, AZUBEL RIVERA, HORACIO ORTIZ-LÓPEZ, ROCÍO ARÁMBULA-MERAZ, ELIAKYM PICOS-CÁRDENAS, VERÓNICA JUDITH |
| description | About seven critical regions along the whole 18q have been proposed for Edwards syndrome (ES) / trisomy 18 (T18) phenotype (Boghosian-Sell et al. 1994; Nguyen-Minh et al. 2013). In contrast, hemizygosity for 18q22.3-18qter region has been linked to most of the features of 18q syndrome (Feenstra et al. 2007; Cody et al. 2009). Moreover, combination of both a partial gain and deletion within the same 18q seems to be fairly rare. Here we report on the rst case of de novo 18q direct duplication (34.9 Mb) / deletion (8.8 Mb) in a girl child with combined phenotypes related to both syndromes as seen in other duplication/deletion complex rearrangements (Neira et al. 2012). Since these complex rearrangements usually exhibit an inv dup/del conguration derived from a U-type exchange, our ndings and observations suggest variations of that mechanism for leading to the conguration observed here. |
| doi_str_mv | 10.1007/s12041-014-0459-8 |
| format | Article |
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In contrast, hemizygosity for 18q22.3-18qter region has been linked to most of the features of 18q syndrome (Feenstra et al. 2007; Cody et al. 2009). Moreover, combination of both a partial gain and deletion within the same 18q seems to be fairly rare. Here we report on the rst case of de novo 18q direct duplication (34.9 Mb) / deletion (8.8 Mb) in a girl child with combined phenotypes related to both syndromes as seen in other duplication/deletion complex rearrangements (Neira et al. 2012). Since these complex rearrangements usually exhibit an inv dup/del conguration derived from a U-type exchange, our ndings and observations suggest variations of that mechanism for leading to the conguration observed here.</description><identifier>ISSN: 0022-1333</identifier><identifier>EISSN: 0973-7731</identifier><identifier>DOI: 10.1007/s12041-014-0459-8</identifier><identifier>PMID: 25572250</identifier><language>eng</language><publisher>India: Springer India</publisher><subject>Animal Genetics and Genomics ; Biomedical and Life Sciences ; Child ; Chromosome Deletion ; Chromosome Duplication - genetics ; Chromosomes, Human, Pair 18 - genetics ; Evolutionary Biology ; Female ; Genotype & phenotype ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Life Sciences ; Microarray Analysis ; Microbial Genetics and Genomics ; Plant Genetics and Genomics ; Polymorphism, Single Nucleotide ; Research Note ; Studies ; Twins</subject><ispartof>Journal of genetics, 2014-12, Vol.93 (3), p.869-873</ispartof><rights>Indian Academy of Sciences 2014</rights><rights>COPYRIGHT 2014 Springer</rights><rights>Indian Academy of Sciences 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c509t-c903a77de244952bb377f075b209bab5889277e925af438a71d94edc91fa199e3</citedby><cites>FETCH-LOGICAL-c509t-c903a77de244952bb377f075b209bab5889277e925af438a71d94edc91fa199e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12041-014-0459-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12041-014-0459-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25572250$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>CÓRDOVA-FLETES, CARLOS</creatorcontrib><creatorcontrib>SÁINZ-GONZÁLEZ, ENRIQUE</creatorcontrib><creatorcontrib>AVENDAÑO-GÁLVEZ, ROBERTO IVÁN</creatorcontrib><creatorcontrib>RAMÍREZ-VELAZCO, AZUBEL</creatorcontrib><creatorcontrib>RIVERA, HORACIO</creatorcontrib><creatorcontrib>ORTIZ-LÓPEZ, ROCÍO</creatorcontrib><creatorcontrib>ARÁMBULA-MERAZ, ELIAKYM</creatorcontrib><creatorcontrib>PICOS-CÁRDENAS, VERÓNICA JUDITH</creatorcontrib><title>De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes</title><title>Journal of genetics</title><addtitle>J Genet</addtitle><addtitle>J Genet</addtitle><description>About seven critical regions along the whole 18q have been proposed for Edwards syndrome (ES) / trisomy 18 (T18) phenotype (Boghosian-Sell et al. 1994; Nguyen-Minh et al. 2013). In contrast, hemizygosity for 18q22.3-18qter region has been linked to most of the features of 18q syndrome (Feenstra et al. 2007; Cody et al. 2009). Moreover, combination of both a partial gain and deletion within the same 18q seems to be fairly rare. Here we report on the rst case of de novo 18q direct duplication (34.9 Mb) / deletion (8.8 Mb) in a girl child with combined phenotypes related to both syndromes as seen in other duplication/deletion complex rearrangements (Neira et al. 2012). Since these complex rearrangements usually exhibit an inv dup/del conguration derived from a U-type exchange, our ndings and observations suggest variations of that mechanism for leading to the conguration observed here.</description><subject>Animal Genetics and Genomics</subject><subject>Biomedical and Life Sciences</subject><subject>Child</subject><subject>Chromosome Deletion</subject><subject>Chromosome Duplication - genetics</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Evolutionary Biology</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Life Sciences</subject><subject>Microarray Analysis</subject><subject>Microbial Genetics and Genomics</subject><subject>Plant Genetics and Genomics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Research Note</subject><subject>Studies</subject><subject>Twins</subject><issn>0022-1333</issn><issn>0973-7731</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kUtv1TAQhSNERUvhB7BBltiwSetnJl5WhdJKFUUqrC0nntzrKolTOwFuf319dVteovJi7PF3jsY-RfGG0SNGKRwnxqlkJWWypFLpsn5WHFANogQQ7HneU85LJoTYL16mdLM9AuUvin2uFHCu6EGBH5CM4XsgzkfilunYYU9CR1h9S9q1jbadMfo7dKTZkOvPX4iN0W4SsaMjZxfX58SPxJKVj33Gfe_IDz-vyeB_ZsW0xjHMmwnTq2Kvs33C1w_1sPh29vHr6Xl5efXp4vTksmwV1XPZaiosgEMupVa8aQRAR0E1nOrGNqquNQdAzZXtpKgtMKclulazzjKtURwW73e-Uwy3C6bZDD612Pd2xLAkwyqpACRTPKPv_kFvwhLHPF2mFLCqqkD9pla2R-PHLsz5S7am5gQY1JxVosrU0X-ovBwOvg0jdj73_xKwnaCNIaWInZmiH2zcGEbNNlqzi9bkaM02WlNnzduHgZdmQPdL8ZhlBvgOSPlqXGH840VPut4DUROp7A</recordid><startdate>20141201</startdate><enddate>20141201</enddate><creator>CÓRDOVA-FLETES, CARLOS</creator><creator>SÁINZ-GONZÁLEZ, ENRIQUE</creator><creator>AVENDAÑO-GÁLVEZ, ROBERTO IVÁN</creator><creator>RAMÍREZ-VELAZCO, AZUBEL</creator><creator>RIVERA, HORACIO</creator><creator>ORTIZ-LÓPEZ, ROCÍO</creator><creator>ARÁMBULA-MERAZ, ELIAKYM</creator><creator>PICOS-CÁRDENAS, VERÓNICA JUDITH</creator><general>Springer India</general><general>Springer</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7SS</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20141201</creationdate><title>De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes</title><author>CÓRDOVA-FLETES, CARLOS ; SÁINZ-GONZÁLEZ, ENRIQUE ; AVENDAÑO-GÁLVEZ, ROBERTO IVÁN ; RAMÍREZ-VELAZCO, AZUBEL ; RIVERA, HORACIO ; ORTIZ-LÓPEZ, ROCÍO ; ARÁMBULA-MERAZ, ELIAKYM ; PICOS-CÁRDENAS, VERÓNICA JUDITH</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c509t-c903a77de244952bb377f075b209bab5889277e925af438a71d94edc91fa199e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Animal Genetics and Genomics</topic><topic>Biomedical and Life Sciences</topic><topic>Child</topic><topic>Chromosome Deletion</topic><topic>Chromosome Duplication - genetics</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Evolutionary Biology</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Life Sciences</topic><topic>Microarray Analysis</topic><topic>Microbial Genetics and Genomics</topic><topic>Plant Genetics and Genomics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Research Note</topic><topic>Studies</topic><topic>Twins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CÓRDOVA-FLETES, CARLOS</creatorcontrib><creatorcontrib>SÁINZ-GONZÁLEZ, ENRIQUE</creatorcontrib><creatorcontrib>AVENDAÑO-GÁLVEZ, ROBERTO IVÁN</creatorcontrib><creatorcontrib>RAMÍREZ-VELAZCO, AZUBEL</creatorcontrib><creatorcontrib>RIVERA, HORACIO</creatorcontrib><creatorcontrib>ORTIZ-LÓPEZ, ROCÍO</creatorcontrib><creatorcontrib>ARÁMBULA-MERAZ, ELIAKYM</creatorcontrib><creatorcontrib>PICOS-CÁRDENAS, VERÓNICA JUDITH</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>CÓRDOVA-FLETES, CARLOS</au><au>SÁINZ-GONZÁLEZ, ENRIQUE</au><au>AVENDAÑO-GÁLVEZ, ROBERTO IVÁN</au><au>RAMÍREZ-VELAZCO, AZUBEL</au><au>RIVERA, HORACIO</au><au>ORTIZ-LÓPEZ, ROCÍO</au><au>ARÁMBULA-MERAZ, ELIAKYM</au><au>PICOS-CÁRDENAS, VERÓNICA JUDITH</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes</atitle><jtitle>Journal of genetics</jtitle><stitle>J Genet</stitle><addtitle>J Genet</addtitle><date>2014-12-01</date><risdate>2014</risdate><volume>93</volume><issue>3</issue><spage>869</spage><epage>873</epage><pages>869-873</pages><issn>0022-1333</issn><eissn>0973-7731</eissn><abstract>About seven critical regions along the whole 18q have been proposed for Edwards syndrome (ES) / trisomy 18 (T18) phenotype (Boghosian-Sell et al. 1994; Nguyen-Minh et al. 2013). In contrast, hemizygosity for 18q22.3-18qter region has been linked to most of the features of 18q syndrome (Feenstra et al. 2007; Cody et al. 2009). Moreover, combination of both a partial gain and deletion within the same 18q seems to be fairly rare. Here we report on the rst case of de novo 18q direct duplication (34.9 Mb) / deletion (8.8 Mb) in a girl child with combined phenotypes related to both syndromes as seen in other duplication/deletion complex rearrangements (Neira et al. 2012). Since these complex rearrangements usually exhibit an inv dup/del conguration derived from a U-type exchange, our ndings and observations suggest variations of that mechanism for leading to the conguration observed here.</abstract><cop>India</cop><pub>Springer India</pub><pmid>25572250</pmid><doi>10.1007/s12041-014-0459-8</doi><tpages>5</tpages></addata></record> |
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| subjects | Animal Genetics and Genomics Biomedical and Life Sciences Child Chromosome Deletion Chromosome Duplication - genetics Chromosomes, Human, Pair 18 - genetics Evolutionary Biology Female Genotype & phenotype Humans In Situ Hybridization, Fluorescence Karyotyping Life Sciences Microarray Analysis Microbial Genetics and Genomics Plant Genetics and Genomics Polymorphism, Single Nucleotide Research Note Studies Twins |
| title | De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes |
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