Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome
The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial delet...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2006-04, Vol.140A (7), p.704-708 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Wenger, Sharon L. Grossfeld, Paul D. Siu, Benjamin L. Coad, James E. Keller, Frank G. Hummel, Marybeth |
| description | The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris‐Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI‐1, but not JAM‐3, which will help to determine the critical genes involved in this syndrome. © 2006 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31146 |
| format | Article |
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It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris‐Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI‐1, but not JAM‐3, which will help to determine the critical genes involved in this syndrome. © 2006 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31146</identifier><identifier>PMID: 16502431</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Biological and medical sciences ; Child ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 11 - genetics ; congenital thrombocytopenia ; contiguous gene syndrome ; Craniofacial Abnormalities ; Developmental Disabilities - pathology ; Female ; Heart Defects, Congenital - pathology ; Hematologic and hematopoietic diseases ; Humans ; In Situ Hybridization, Fluorescence ; Jacobsen syndrome ; Karyotyping ; Medical sciences ; Paris-Trousseau ; Platelet diseases and coagulopathies ; Syndrome</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris‐Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI‐1, but not JAM‐3, which will help to determine the critical genes involved in this syndrome. © 2006 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>congenital thrombocytopenia</subject><subject>contiguous gene syndrome</subject><subject>Craniofacial Abnormalities</subject><subject>Developmental Disabilities - pathology</subject><subject>Female</subject><subject>Heart Defects, Congenital - pathology</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Jacobsen syndrome</subject><subject>Karyotyping</subject><subject>Medical sciences</subject><subject>Paris-Trousseau</subject><subject>Platelet diseases and coagulopathies</subject><subject>Syndrome</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0ctvEzEQB-AVAtEH3DgjX-DUDX6tvTlWFQSqtPTA42jNemeJy643tb0K4a_HaUJ7g5Mt-5sZ2b-ieMXojFHK38Ht8GMGM8GYVE-KY1ZVvJS1EE8f9rw6Kk5ivKVU0Eqr58URUxXlUrDjYnM19minHgKxKwhgEwb3G5IbPRk7Ap4wdkecz8cxueSgJy32eH_vPAGyzhZ9IhuXViStkNjeeWez6xDSFDDu-lyCHZuInsStb8M44IviWQd9xJeH9bT4-uH9l4uP5fLz4tPF-bK0UnBVyk7wljPWIGdzbBBA13NhgdmulQp0y61sGqZrRZVkUswrShWtGbSN1lKCOC3e7vuuw3g3YUxmcNFi34PHcYpGaT1XSsj_Qk7nXOYhGZ7toQ1jjAE7sw5ugLA1jJpdImaXiAFzn0jmrw99p2bA9hEfIsjgzQFAzN_WBfDWxUenVV2zmmYn9m7jetz-c6g5v7xa_B1f7qtcTPjroQrCz_x0oSvz_XphvrGbxXJ5Q821-AM_xLRM</recordid><startdate>20060401</startdate><enddate>20060401</enddate><creator>Wenger, Sharon L.</creator><creator>Grossfeld, Paul D.</creator><creator>Siu, Benjamin L.</creator><creator>Coad, James E.</creator><creator>Keller, Frank G.</creator><creator>Hummel, Marybeth</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060401</creationdate><title>Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome</title><author>Wenger, Sharon L. ; Grossfeld, Paul D. ; Siu, Benjamin L. ; Coad, James E. ; Keller, Frank G. ; Hummel, Marybeth</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4326-4f32d211be219ebeaa7893ca1cfd46a7d2c4bb178606414395006081adb7744a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosome Banding</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>congenital thrombocytopenia</topic><topic>contiguous gene syndrome</topic><topic>Craniofacial Abnormalities</topic><topic>Developmental Disabilities - pathology</topic><topic>Female</topic><topic>Heart Defects, Congenital - pathology</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Jacobsen syndrome</topic><topic>Karyotyping</topic><topic>Medical sciences</topic><topic>Paris-Trousseau</topic><topic>Platelet diseases and coagulopathies</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wenger, Sharon L.</creatorcontrib><creatorcontrib>Grossfeld, Paul D.</creatorcontrib><creatorcontrib>Siu, Benjamin L.</creatorcontrib><creatorcontrib>Coad, James E.</creatorcontrib><creatorcontrib>Keller, Frank G.</creatorcontrib><creatorcontrib>Hummel, Marybeth</creatorcontrib><collection>Istex</collection><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wenger, Sharon L.</au><au>Grossfeld, Paul D.</au><au>Siu, Benjamin L.</au><au>Coad, James E.</au><au>Keller, Frank G.</au><au>Hummel, Marybeth</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2006-04-01</date><risdate>2006</risdate><volume>140A</volume><issue>7</issue><spage>704</spage><epage>708</epage><pages>704-708</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris‐Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI‐1, but not JAM‐3, which will help to determine the critical genes involved in this syndrome. © 2006 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>16502431</pmid><doi>10.1002/ajmg.a.31146</doi><tpages>5</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 - genetics congenital thrombocytopenia contiguous gene syndrome Craniofacial Abnormalities Developmental Disabilities - pathology Female Heart Defects, Congenital - pathology Hematologic and hematopoietic diseases Humans In Situ Hybridization, Fluorescence Jacobsen syndrome Karyotyping Medical sciences Paris-Trousseau Platelet diseases and coagulopathies Syndrome |
| title | Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome |
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