Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development and challenging the notion that a specific mutation disposes toward a sp...
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| Veröffentlicht in: | The New England journal of medicine 2008-10, Vol.359 (16), p.1685-1699 |
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| creator | Mefford, Heather C Sharp, Andrew J Baker, Carl Itsara, Andy Jiang, Zhaoshi Buysse, Karen Huang, Shuwen Maloney, Viv K Crolla, John A Baralle, Diana Collins, Amanda Mercer, Catherine Norga, Koen de Ravel, Thomy Devriendt, Koen Bongers, Ernie M.H.F de Leeuw, Nicole Reardon, William Gimelli, Giorgio Gimelli, Stefania Bena, Frederique Hennekam, Raoul C Male, Alison Gaunt, Lorraine Clayton-Smith, Jill Simonic, Ingrid Park, Soo Mi Mehta, Sarju G Nik-Zainal, Serena Woods, C. Geoffrey Firth, Helen V Parkin, Georgina Fichera, Marco Reitano, Santina Giudice, Mariangela Lo Li, Kelly E Casuga, Iris Broomer, Adam Conrad, Bernard Schwerzmann, Markus Räber, Lorenz Gallati, Sabina Striano, Pasquale Coppola, Antonietta Tolmie, John L Tobias, Edward S Lilley, Chris Armengol, Lluis Spysschaert, Yves Verloo, Patrick De Coene, Anja Goossens, Linde Mortier, Geert Speleman, Frank van Binsbergen, Ellen Nelen, Marcel R Hochstenbach, Ron Poot, Martin Gallagher, Louise Gill, Michael McClellan, Jon King, Mary-Claire Regan, Regina Skinner, Cindy Stevenson, Roger E Antonarakis, Stylianos E Chen, Caifu Estivill, Xavier Menten, Björn Gribble, Susan Schwartz, Charles E Schwartz, Stuart Sutcliffe, James S Walsh, Tom Knight, Samantha J.L Sebat, Jonathan Romano, Corrado Veltman, Joris A de Vries, Bert B.A Vermeesch, Joris R Barber, John C.K Willatt, Lionel Tassabehji, May Eichler, Evan E |
| description | This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development and challenging the notion that a specific mutation disposes toward a specific disorder or syndrome.
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development.
Recent advances in technologies such as comparative genomic hybridization (CGH; see Glossary) allow for the routine detection of submicroscopic deletions and duplications. Several studies of persons with mental retardation or congenital anomalies of unknown cause have led to the identification of new genomic disorders.
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Classically, criteria that have been applied to determine whether a given rearrangement is causative include de novo appearance of the deletion or duplication in an affected individual (i.e., it is not present in unaffected parents), recurrence of the same or an overlapping event in similarly affected persons, and absence of the deletion or duplication in . . . |
| doi_str_mv | 10.1056/NEJMoa0805384 |
| format | Article |
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This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development.
Recent advances in technologies such as comparative genomic hybridization (CGH; see Glossary) allow for the routine detection of submicroscopic deletions and duplications. Several studies of persons with mental retardation or congenital anomalies of unknown cause have led to the identification of new genomic disorders.
1
–
10
Classically, criteria that have been applied to determine whether a given rearrangement is causative include de novo appearance of the deletion or duplication in an affected individual (i.e., it is not present in unaffected parents), recurrence of the same or an overlapping event in similarly affected persons, and absence of the deletion or duplication in . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJMoa0805384</identifier><identifier>PMID: 18784092</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Boston, MA: Massachusetts Medical Society</publisher><subject>Autistic Disorder - genetics ; Biological and medical sciences ; Cataract - congenital ; Cataract - genetics ; Child ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes ; Chromosomes, Human, Pair 1 - genetics ; Congenital Abnormalities - genetics ; Female ; Gene Duplication ; Gene Rearrangement ; General aspects ; Genetic Variation ; Genotype & phenotype ; Heart Defects, Congenital - genetics ; Humans ; Intellectual Disability - genetics ; Male ; Medical sciences ; Microcephaly - genetics ; Molecular biology ; Pathology ; Pediatrics ; Phenotype ; Recombination, Genetic</subject><ispartof>The New England journal of medicine, 2008-10, Vol.359 (16), p.1685-1699</ispartof><rights>Copyright © 2008 Massachusetts Medical Society. All rights reserved.</rights><rights>2008 INIST-CNRS</rights><rights>2008 Massachusetts Medical Society</rights><rights>Copyright © 2008 Massachusetts Medical Society. 2008</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c673t-d7c566ae908946464ee7db920e98ee0696d4a39d6b3131365dd378ed5820613c3</citedby><cites>FETCH-LOGICAL-c673t-d7c566ae908946464ee7db920e98ee0696d4a39d6b3131365dd378ed5820613c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMoa0805384$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/223917005?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,314,776,780,881,2745,2746,26082,27903,27904,52360,54042,64361,64365,72215</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20747804$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18784092$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mefford, Heather C</creatorcontrib><creatorcontrib>Sharp, Andrew J</creatorcontrib><creatorcontrib>Baker, Carl</creatorcontrib><creatorcontrib>Itsara, Andy</creatorcontrib><creatorcontrib>Jiang, Zhaoshi</creatorcontrib><creatorcontrib>Buysse, Karen</creatorcontrib><creatorcontrib>Huang, Shuwen</creatorcontrib><creatorcontrib>Maloney, Viv K</creatorcontrib><creatorcontrib>Crolla, John A</creatorcontrib><creatorcontrib>Baralle, Diana</creatorcontrib><creatorcontrib>Collins, Amanda</creatorcontrib><creatorcontrib>Mercer, Catherine</creatorcontrib><creatorcontrib>Norga, Koen</creatorcontrib><creatorcontrib>de Ravel, Thomy</creatorcontrib><creatorcontrib>Devriendt, Koen</creatorcontrib><creatorcontrib>Bongers, Ernie M.H.F</creatorcontrib><creatorcontrib>de Leeuw, Nicole</creatorcontrib><creatorcontrib>Reardon, William</creatorcontrib><creatorcontrib>Gimelli, Giorgio</creatorcontrib><creatorcontrib>Gimelli, Stefania</creatorcontrib><creatorcontrib>Bena, Frederique</creatorcontrib><creatorcontrib>Hennekam, Raoul C</creatorcontrib><creatorcontrib>Male, Alison</creatorcontrib><creatorcontrib>Gaunt, Lorraine</creatorcontrib><creatorcontrib>Clayton-Smith, Jill</creatorcontrib><creatorcontrib>Simonic, Ingrid</creatorcontrib><creatorcontrib>Park, Soo Mi</creatorcontrib><creatorcontrib>Mehta, Sarju G</creatorcontrib><creatorcontrib>Nik-Zainal, Serena</creatorcontrib><creatorcontrib>Woods, C. Geoffrey</creatorcontrib><creatorcontrib>Firth, Helen V</creatorcontrib><creatorcontrib>Parkin, Georgina</creatorcontrib><creatorcontrib>Fichera, Marco</creatorcontrib><creatorcontrib>Reitano, Santina</creatorcontrib><creatorcontrib>Giudice, Mariangela Lo</creatorcontrib><creatorcontrib>Li, Kelly E</creatorcontrib><creatorcontrib>Casuga, Iris</creatorcontrib><creatorcontrib>Broomer, Adam</creatorcontrib><creatorcontrib>Conrad, Bernard</creatorcontrib><creatorcontrib>Schwerzmann, Markus</creatorcontrib><creatorcontrib>Räber, Lorenz</creatorcontrib><creatorcontrib>Gallati, Sabina</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Coppola, Antonietta</creatorcontrib><creatorcontrib>Tolmie, John L</creatorcontrib><creatorcontrib>Tobias, Edward S</creatorcontrib><creatorcontrib>Lilley, Chris</creatorcontrib><creatorcontrib>Armengol, Lluis</creatorcontrib><creatorcontrib>Spysschaert, Yves</creatorcontrib><creatorcontrib>Verloo, Patrick</creatorcontrib><creatorcontrib>De Coene, Anja</creatorcontrib><creatorcontrib>Goossens, Linde</creatorcontrib><creatorcontrib>Mortier, Geert</creatorcontrib><creatorcontrib>Speleman, Frank</creatorcontrib><creatorcontrib>van Binsbergen, Ellen</creatorcontrib><creatorcontrib>Nelen, Marcel R</creatorcontrib><creatorcontrib>Hochstenbach, Ron</creatorcontrib><creatorcontrib>Poot, Martin</creatorcontrib><creatorcontrib>Gallagher, Louise</creatorcontrib><creatorcontrib>Gill, Michael</creatorcontrib><creatorcontrib>McClellan, Jon</creatorcontrib><creatorcontrib>King, Mary-Claire</creatorcontrib><creatorcontrib>Regan, Regina</creatorcontrib><creatorcontrib>Skinner, Cindy</creatorcontrib><creatorcontrib>Stevenson, Roger E</creatorcontrib><creatorcontrib>Antonarakis, Stylianos E</creatorcontrib><creatorcontrib>Chen, Caifu</creatorcontrib><creatorcontrib>Estivill, Xavier</creatorcontrib><creatorcontrib>Menten, Björn</creatorcontrib><creatorcontrib>Gribble, Susan</creatorcontrib><creatorcontrib>Schwartz, Charles E</creatorcontrib><creatorcontrib>Schwartz, Stuart</creatorcontrib><creatorcontrib>Sutcliffe, James S</creatorcontrib><creatorcontrib>Walsh, Tom</creatorcontrib><creatorcontrib>Knight, Samantha J.L</creatorcontrib><creatorcontrib>Sebat, Jonathan</creatorcontrib><creatorcontrib>Romano, Corrado</creatorcontrib><creatorcontrib>Veltman, Joris A</creatorcontrib><creatorcontrib>de Vries, Bert B.A</creatorcontrib><creatorcontrib>Vermeesch, Joris R</creatorcontrib><creatorcontrib>Barber, John C.K</creatorcontrib><creatorcontrib>Willatt, Lionel</creatorcontrib><creatorcontrib>Tassabehji, May</creatorcontrib><creatorcontrib>Eichler, Evan E</creatorcontrib><title>Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development and challenging the notion that a specific mutation disposes toward a specific disorder or syndrome.
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development.
Recent advances in technologies such as comparative genomic hybridization (CGH; see Glossary) allow for the routine detection of submicroscopic deletions and duplications. Several studies of persons with mental retardation or congenital anomalies of unknown cause have led to the identification of new genomic disorders.
1
–
10
Classically, criteria that have been applied to determine whether a given rearrangement is causative include de novo appearance of the deletion or duplication in an affected individual (i.e., it is not present in unaffected parents), recurrence of the same or an overlapping event in similarly affected persons, and absence of the deletion or duplication in . . .</description><subject>Autistic Disorder - genetics</subject><subject>Biological and medical sciences</subject><subject>Cataract - congenital</subject><subject>Cataract - genetics</subject><subject>Child</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Deletion</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Congenital Abnormalities - genetics</subject><subject>Female</subject><subject>Gene Duplication</subject><subject>Gene Rearrangement</subject><subject>General aspects</subject><subject>Genetic Variation</subject><subject>Genotype & phenotype</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microcephaly - genetics</subject><subject>Molecular biology</subject><subject>Pathology</subject><subject>Pediatrics</subject><subject>Phenotype</subject><subject>Recombination, Genetic</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kEtrGzEURkVISVwny2zLUMhy0qvH6LEpFJO0CWltQtqtkKXreIxnZEvjQP59VWKSZhHdhRA6fPfjEHJG4YJCI7_8urz5GR1oaLgWB2REG85rIUAekhEA07VQhh-TjzmvoBwqzBE5plppAYaNyPQO_S4l7IfqDl1Krn_ArrxyFRfVZJliF3PssKJbRi9o5fpQ_XGpdfM1VjMMrRtS66vZEvs4PG0wn5APC7fOeLq_x-T31eX95Ed9O_1-Pfl2W3up-FAH5RspHRrQRsgyiCrMDQM0GhGkkUE4boKcc1pGNiFwpTE0moGk3PMx-fqcu9nNOwy-VE5ubTep7Vx6stG19u1P3y7tQ3y0TAFXgpWAz_uAFLc7zINdxV3qS2fLGDdUQTE6JvUz5FPMOeHiZQEF-0-_faO_8J_-b_VK730X4HwPuOzdelF8-za_cAyUUBrEK9d12fa46t5Z-Bdm5JhG</recordid><startdate>20081016</startdate><enddate>20081016</enddate><creator>Mefford, Heather C</creator><creator>Sharp, Andrew J</creator><creator>Baker, Carl</creator><creator>Itsara, Andy</creator><creator>Jiang, Zhaoshi</creator><creator>Buysse, Karen</creator><creator>Huang, Shuwen</creator><creator>Maloney, Viv K</creator><creator>Crolla, John A</creator><creator>Baralle, Diana</creator><creator>Collins, Amanda</creator><creator>Mercer, Catherine</creator><creator>Norga, Koen</creator><creator>de Ravel, Thomy</creator><creator>Devriendt, Koen</creator><creator>Bongers, Ernie M.H.F</creator><creator>de Leeuw, Nicole</creator><creator>Reardon, William</creator><creator>Gimelli, Giorgio</creator><creator>Gimelli, Stefania</creator><creator>Bena, Frederique</creator><creator>Hennekam, Raoul C</creator><creator>Male, Alison</creator><creator>Gaunt, Lorraine</creator><creator>Clayton-Smith, Jill</creator><creator>Simonic, Ingrid</creator><creator>Park, Soo Mi</creator><creator>Mehta, Sarju G</creator><creator>Nik-Zainal, Serena</creator><creator>Woods, C. 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Geoffrey ; Firth, Helen V ; Parkin, Georgina ; Fichera, Marco ; Reitano, Santina ; Giudice, Mariangela Lo ; Li, Kelly E ; Casuga, Iris ; Broomer, Adam ; Conrad, Bernard ; Schwerzmann, Markus ; Räber, Lorenz ; Gallati, Sabina ; Striano, Pasquale ; Coppola, Antonietta ; Tolmie, John L ; Tobias, Edward S ; Lilley, Chris ; Armengol, Lluis ; Spysschaert, Yves ; Verloo, Patrick ; De Coene, Anja ; Goossens, Linde ; Mortier, Geert ; Speleman, Frank ; van Binsbergen, Ellen ; Nelen, Marcel R ; Hochstenbach, Ron ; Poot, Martin ; Gallagher, Louise ; Gill, Michael ; McClellan, Jon ; King, Mary-Claire ; Regan, Regina ; Skinner, Cindy ; Stevenson, Roger E ; Antonarakis, Stylianos E ; Chen, Caifu ; Estivill, Xavier ; Menten, Björn ; Gribble, Susan ; Schwartz, Charles E ; Schwartz, Stuart ; Sutcliffe, James S ; Walsh, Tom ; Knight, Samantha J.L ; Sebat, Jonathan ; Romano, Corrado ; Veltman, Joris A ; de Vries, Bert B.A ; Vermeesch, Joris R ; Barber, John C.K ; Willatt, Lionel ; Tassabehji, May ; Eichler, Evan E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c673t-d7c566ae908946464ee7db920e98ee0696d4a39d6b3131365dd378ed5820613c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Autistic Disorder - genetics</topic><topic>Biological and medical sciences</topic><topic>Cataract - congenital</topic><topic>Cataract - genetics</topic><topic>Child</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Deletion</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Congenital Abnormalities - genetics</topic><topic>Female</topic><topic>Gene Duplication</topic><topic>Gene Rearrangement</topic><topic>General aspects</topic><topic>Genetic Variation</topic><topic>Genotype & phenotype</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microcephaly - genetics</topic><topic>Molecular biology</topic><topic>Pathology</topic><topic>Pediatrics</topic><topic>Phenotype</topic><topic>Recombination, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mefford, Heather C</creatorcontrib><creatorcontrib>Sharp, Andrew J</creatorcontrib><creatorcontrib>Baker, Carl</creatorcontrib><creatorcontrib>Itsara, Andy</creatorcontrib><creatorcontrib>Jiang, Zhaoshi</creatorcontrib><creatorcontrib>Buysse, Karen</creatorcontrib><creatorcontrib>Huang, Shuwen</creatorcontrib><creatorcontrib>Maloney, Viv K</creatorcontrib><creatorcontrib>Crolla, John A</creatorcontrib><creatorcontrib>Baralle, Diana</creatorcontrib><creatorcontrib>Collins, Amanda</creatorcontrib><creatorcontrib>Mercer, Catherine</creatorcontrib><creatorcontrib>Norga, Koen</creatorcontrib><creatorcontrib>de Ravel, Thomy</creatorcontrib><creatorcontrib>Devriendt, Koen</creatorcontrib><creatorcontrib>Bongers, Ernie M.H.F</creatorcontrib><creatorcontrib>de Leeuw, Nicole</creatorcontrib><creatorcontrib>Reardon, William</creatorcontrib><creatorcontrib>Gimelli, Giorgio</creatorcontrib><creatorcontrib>Gimelli, Stefania</creatorcontrib><creatorcontrib>Bena, Frederique</creatorcontrib><creatorcontrib>Hennekam, Raoul C</creatorcontrib><creatorcontrib>Male, Alison</creatorcontrib><creatorcontrib>Gaunt, Lorraine</creatorcontrib><creatorcontrib>Clayton-Smith, Jill</creatorcontrib><creatorcontrib>Simonic, Ingrid</creatorcontrib><creatorcontrib>Park, Soo Mi</creatorcontrib><creatorcontrib>Mehta, Sarju G</creatorcontrib><creatorcontrib>Nik-Zainal, Serena</creatorcontrib><creatorcontrib>Woods, C. 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Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mefford, Heather C</au><au>Sharp, Andrew J</au><au>Baker, Carl</au><au>Itsara, Andy</au><au>Jiang, Zhaoshi</au><au>Buysse, Karen</au><au>Huang, Shuwen</au><au>Maloney, Viv K</au><au>Crolla, John A</au><au>Baralle, Diana</au><au>Collins, Amanda</au><au>Mercer, Catherine</au><au>Norga, Koen</au><au>de Ravel, Thomy</au><au>Devriendt, Koen</au><au>Bongers, Ernie M.H.F</au><au>de Leeuw, Nicole</au><au>Reardon, William</au><au>Gimelli, Giorgio</au><au>Gimelli, Stefania</au><au>Bena, Frederique</au><au>Hennekam, Raoul C</au><au>Male, Alison</au><au>Gaunt, Lorraine</au><au>Clayton-Smith, Jill</au><au>Simonic, Ingrid</au><au>Park, Soo Mi</au><au>Mehta, Sarju G</au><au>Nik-Zainal, Serena</au><au>Woods, C. Geoffrey</au><au>Firth, Helen V</au><au>Parkin, Georgina</au><au>Fichera, Marco</au><au>Reitano, Santina</au><au>Giudice, Mariangela Lo</au><au>Li, Kelly E</au><au>Casuga, Iris</au><au>Broomer, Adam</au><au>Conrad, Bernard</au><au>Schwerzmann, Markus</au><au>Räber, Lorenz</au><au>Gallati, Sabina</au><au>Striano, Pasquale</au><au>Coppola, Antonietta</au><au>Tolmie, John L</au><au>Tobias, Edward S</au><au>Lilley, Chris</au><au>Armengol, Lluis</au><au>Spysschaert, Yves</au><au>Verloo, Patrick</au><au>De Coene, Anja</au><au>Goossens, Linde</au><au>Mortier, Geert</au><au>Speleman, Frank</au><au>van Binsbergen, Ellen</au><au>Nelen, Marcel R</au><au>Hochstenbach, Ron</au><au>Poot, Martin</au><au>Gallagher, Louise</au><au>Gill, Michael</au><au>McClellan, Jon</au><au>King, Mary-Claire</au><au>Regan, Regina</au><au>Skinner, Cindy</au><au>Stevenson, Roger E</au><au>Antonarakis, Stylianos E</au><au>Chen, Caifu</au><au>Estivill, Xavier</au><au>Menten, Björn</au><au>Gribble, Susan</au><au>Schwartz, Charles E</au><au>Schwartz, Stuart</au><au>Sutcliffe, James S</au><au>Walsh, Tom</au><au>Knight, Samantha J.L</au><au>Sebat, Jonathan</au><au>Romano, Corrado</au><au>Veltman, Joris A</au><au>de Vries, Bert B.A</au><au>Vermeesch, Joris R</au><au>Barber, John C.K</au><au>Willatt, Lionel</au><au>Tassabehji, May</au><au>Eichler, Evan E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2008-10-16</date><risdate>2008</risdate><volume>359</volume><issue>16</issue><spage>1685</spage><epage>1699</epage><pages>1685-1699</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><coden>NEJMAG</coden><abstract>This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development and challenging the notion that a specific mutation disposes toward a specific disorder or syndrome.
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a fundamental role of the deletion or duplication in early development.
Recent advances in technologies such as comparative genomic hybridization (CGH; see Glossary) allow for the routine detection of submicroscopic deletions and duplications. Several studies of persons with mental retardation or congenital anomalies of unknown cause have led to the identification of new genomic disorders.
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Classically, criteria that have been applied to determine whether a given rearrangement is causative include de novo appearance of the deletion or duplication in an affected individual (i.e., it is not present in unaffected parents), recurrence of the same or an overlapping event in similarly affected persons, and absence of the deletion or duplication in . . .</abstract><cop>Boston, MA</cop><pub>Massachusetts Medical Society</pub><pmid>18784092</pmid><doi>10.1056/NEJMoa0805384</doi><tpages>15</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 2008-10, Vol.359 (16), p.1685-1699 |
| issn | 0028-4793 1533-4406 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; New England Journal of Medicine |
| subjects | Autistic Disorder - genetics Biological and medical sciences Cataract - congenital Cataract - genetics Child Chromosome Aberrations Chromosome Deletion Chromosomes Chromosomes, Human, Pair 1 - genetics Congenital Abnormalities - genetics Female Gene Duplication Gene Rearrangement General aspects Genetic Variation Genotype & phenotype Heart Defects, Congenital - genetics Humans Intellectual Disability - genetics Male Medical sciences Microcephaly - genetics Molecular biology Pathology Pediatrics Phenotype Recombination, Genetic |
| title | Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes |
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