Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations
Abstract We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotrun...
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| Veröffentlicht in: | European journal of medical genetics 2007-03, Vol.50 (2), p.128-132 |
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| container_title | European journal of medical genetics |
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| creator | Tyshchenko, Nataliya A Riegel, Mariluce Evseenkova, Elena G Zerova, Tatjana E Gorovenko, Nataliya G Schinzel, Albert |
| description | Abstract We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions. |
| doi_str_mv | 10.1016/j.ejmg.2006.10.008 |
| format | Article |
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The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2006.10.008</identifier><identifier>PMID: 17174617</identifier><language>eng</language><publisher>Amsterdam: Elsevier Masson SAS</publisher><subject>Biological and medical sciences ; Chromosome Aberrations ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 22 ; Cleft uvula ; Congenital cardiac anomaly ; Del(22q11.2) ; Dup(12p) ; Facial dysmorphism ; Fatal Outcome ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; Gene Duplication ; General aspects. Genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Medical Education ; Medical genetics ; Medical sciences ; Molecular and cellular biology</subject><ispartof>European journal of medical genetics, 2007-03, Vol.50 (2), p.128-132</ispartof><rights>Elsevier Masson SAS</rights><rights>2006 Elsevier Masson SAS</rights><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c439t-a3d39056c31c431648a8c9037a4cfbd78c7520be69576dcdd3c3eea21df3bf273</citedby><cites>FETCH-LOGICAL-c439t-a3d39056c31c431648a8c9037a4cfbd78c7520be69576dcdd3c3eea21df3bf273</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1769721206001078$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18632883$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17174617$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tyshchenko, Nataliya A</creatorcontrib><creatorcontrib>Riegel, Mariluce</creatorcontrib><creatorcontrib>Evseenkova, Elena G</creatorcontrib><creatorcontrib>Zerova, Tatjana E</creatorcontrib><creatorcontrib>Gorovenko, Nataliya G</creatorcontrib><creatorcontrib>Schinzel, Albert</creatorcontrib><title>Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations</title><title>European journal of medical genetics</title><addtitle>Eur J Med Genet</addtitle><description>Abstract We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.</description><subject>Biological and medical sciences</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 12</subject><subject>Chromosomes, Human, Pair 22</subject><subject>Cleft uvula</subject><subject>Congenital cardiac anomaly</subject><subject>Del(22q11.2)</subject><subject>Dup(12p)</subject><subject>Facial dysmorphism</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Deletion</subject><subject>Gene Duplication</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant, Newborn</subject><subject>Karyotyping</subject><subject>Medical Education</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular and cellular biology</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kk1v1DAQhiNERT_gD3BAuYC6h4SxnbUdqUKqChSkShyAs-XYE-qQxKmdtOqdH47DrliJAydbr54Zjx5Plr0kUBIg_G1XYjf8KCkAT0EJIJ9kJ0QKWYCs6qfpLnhdCErocXYaYwfAJKH1s-yYCCIqTsRJ9uv9MvXO6Nn5Mfdtfk7o5nyaMRR3hJVskxs_NG5Emz-4-Ta32ONflB5QUtJN7sZc51NqheO8w1vU8xIwrnjjU2Bugx989APmusEQ_rwbn2dHre4jvtifZ9n3jx--XX0qbr5cf766vClMxeq50MyyGrbcMJICwiuppamBCV2ZtrFCGrGl0CCvt4JbYy0zDFFTYlvWtFSws-zNru8U_N2CcVaDiwb7Xo_ol6gEUMlhWyWQ7kATfIwBWzUFN-jwqAio1b3q1Opere7XLLlPRa_23ZdmQHso2ctOwOs9oKPRfRv0aFw8cJIzKiVL3MWOw-Ti3mFQ0SSnBq0LaGZlvfv_HO_-KTe9G9Mf9z_xEWPnlzAmy4qoSBWor-uWrEsCHICAkOw3WBe1mg</recordid><startdate>20070301</startdate><enddate>20070301</enddate><creator>Tyshchenko, Nataliya A</creator><creator>Riegel, Mariluce</creator><creator>Evseenkova, Elena G</creator><creator>Zerova, Tatjana E</creator><creator>Gorovenko, Nataliya G</creator><creator>Schinzel, Albert</creator><general>Elsevier Masson SAS</general><general>Elsevier</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>20070301</creationdate><title>Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations</title><author>Tyshchenko, Nataliya A ; Riegel, Mariluce ; Evseenkova, Elena G ; Zerova, Tatjana E ; Gorovenko, Nataliya G ; Schinzel, Albert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c439t-a3d39056c31c431648a8c9037a4cfbd78c7520be69576dcdd3c3eea21df3bf273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 12</topic><topic>Chromosomes, Human, Pair 22</topic><topic>Cleft uvula</topic><topic>Congenital cardiac anomaly</topic><topic>Del(22q11.2)</topic><topic>Dup(12p)</topic><topic>Facial dysmorphism</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Deletion</topic><topic>Gene Duplication</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant, Newborn</topic><topic>Karyotyping</topic><topic>Medical Education</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular and cellular biology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tyshchenko, Nataliya A</creatorcontrib><creatorcontrib>Riegel, Mariluce</creatorcontrib><creatorcontrib>Evseenkova, Elena G</creatorcontrib><creatorcontrib>Zerova, Tatjana E</creatorcontrib><creatorcontrib>Gorovenko, Nataliya G</creatorcontrib><creatorcontrib>Schinzel, Albert</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tyshchenko, Nataliya A</au><au>Riegel, Mariluce</au><au>Evseenkova, Elena G</au><au>Zerova, Tatjana E</au><au>Gorovenko, Nataliya G</au><au>Schinzel, Albert</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2007-03-01</date><risdate>2007</risdate><volume>50</volume><issue>2</issue><spage>128</spage><epage>132</epage><pages>128-132</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Abstract We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.</abstract><cop>Amsterdam</cop><pub>Elsevier Masson SAS</pub><pmid>17174617</pmid><doi>10.1016/j.ejmg.2006.10.008</doi><tpages>5</tpages></addata></record> |
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| subjects | Biological and medical sciences Chromosome Aberrations Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 22 Cleft uvula Congenital cardiac anomaly Del(22q11.2) Dup(12p) Facial dysmorphism Fatal Outcome Female Fundamental and applied biological sciences. Psychology Gene Deletion Gene Duplication General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans In Situ Hybridization, Fluorescence Infant, Newborn Karyotyping Medical Education Medical genetics Medical sciences Molecular and cellular biology |
| title | Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations |
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