Three patients with terminal deletions within the subtelomeric region of chromosome 9q
We report on three male infants with de novo terminal deletions of chromosome 9q34.3. The clinical features are compared to the nine cases described in the literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for a chromosomal anomaly, case 2 was confirmed by FI...
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| Veröffentlicht in: | American journal of medical genetics 2005-02, Vol.132A (4), p.425-430 |
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| container_title | American journal of medical genetics |
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| creator | Neas, Katherine R. Smith, Janine M. Chia, Nicole Huseyin, Suna Heaps, Luke St Peters, Greg Sholler, Gary Tzioumi, Dimitra Sillence, David O. Mowat, David |
| description | We report on three male infants with de novo terminal deletions of chromosome 9q34.3. The clinical features are compared to the nine cases described in the literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for a chromosomal anomaly, case 2 was confirmed by FISH probe following detection of a 9q deletion on standard karyotyping. Deletions in this region result in severe developmental delay, a distinct facial phenotype, cardiac anomalies, obesity, and respiratory failure, which may result in premature death. The delineation of the 9q deletion phenotype will aid diagnosis and genetic counseling as subtelomere FISH screening becomes more widely available. © 2005 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.30496 |
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The clinical features are compared to the nine cases described in the literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for a chromosomal anomaly, case 2 was confirmed by FISH probe following detection of a 9q deletion on standard karyotyping. Deletions in this region result in severe developmental delay, a distinct facial phenotype, cardiac anomalies, obesity, and respiratory failure, which may result in premature death. The delineation of the 9q deletion phenotype will aid diagnosis and genetic counseling as subtelomere FISH screening becomes more widely available. © 2005 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1552-4833</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.a.30496</identifier><identifier>PMID: 15633179</identifier><identifier>CODEN: AJMGDA</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 ; chromosome 9q ; Chromosome aberrations ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 9 - genetics ; Developmental Disabilities - pathology ; Face - abnormalities ; Fatal Outcome ; FISH probe ; General aspects. Genetic counseling ; Heart Defects, Congenital - pathology ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Medical genetics ; Medical sciences ; Respiratory Insufficiency - pathology ; subtelomeric deletion ; Telomere - genetics</subject><ispartof>American journal of medical genetics, 2005-02, Vol.132A (4), p.425-430</ispartof><rights>Copyright © 2005 Wiley‐Liss, Inc.</rights><rights>2005 INIST-CNRS</rights><rights>(c) 2005 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3946-4ea71827c347a52c89ec125344c66fa3a76ebe66b0e3b220720e8ed0078490f83</citedby><cites>FETCH-LOGICAL-c3946-4ea71827c347a52c89ec125344c66fa3a76ebe66b0e3b220720e8ed0078490f83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.30496$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.30496$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27933,27934,45583,45584</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16548578$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15633179$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Neas, Katherine R.</creatorcontrib><creatorcontrib>Smith, Janine M.</creatorcontrib><creatorcontrib>Chia, Nicole</creatorcontrib><creatorcontrib>Huseyin, Suna</creatorcontrib><creatorcontrib>Heaps, Luke St</creatorcontrib><creatorcontrib>Peters, Greg</creatorcontrib><creatorcontrib>Sholler, Gary</creatorcontrib><creatorcontrib>Tzioumi, Dimitra</creatorcontrib><creatorcontrib>Sillence, David O.</creatorcontrib><creatorcontrib>Mowat, David</creatorcontrib><title>Three patients with terminal deletions within the subtelomeric region of chromosome 9q</title><title>American journal of medical genetics</title><addtitle>Am J Med Genet A</addtitle><description>We report on three male infants with de novo terminal deletions of chromosome 9q34.3. The clinical features are compared to the nine cases described in the literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for a chromosomal anomaly, case 2 was confirmed by FISH probe following detection of a 9q deletion on standard karyotyping. Deletions in this region result in severe developmental delay, a distinct facial phenotype, cardiac anomalies, obesity, and respiratory failure, which may result in premature death. The delineation of the 9q deletion phenotype will aid diagnosis and genetic counseling as subtelomere FISH screening becomes more widely available. © 2005 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Biological and medical sciences</subject><subject>chromosome 9q</subject><subject>Chromosome aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 9 - genetics</subject><subject>Developmental Disabilities - pathology</subject><subject>Face - abnormalities</subject><subject>Fatal Outcome</subject><subject>FISH probe</subject><subject>General aspects. Genetic counseling</subject><subject>Heart Defects, Congenital - pathology</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Respiratory Insufficiency - pathology</subject><subject>subtelomeric deletion</subject><subject>Telomere - genetics</subject><issn>1552-4825</issn><issn>0148-7299</issn><issn>1552-4833</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0EtPAjEQB_DGaAQfN8-mFz0J9t3ukRCf0XhRr023zELJPqBdQvj2gkv0pqeZTH-ZSf8IXVAypISwWzevpkM35ERk6gD1qZRsIAznhz89kz10ktKcEE6kVseoR6XinOqsjz7fZxEAL1wboG4TXod2hluIVahdiSdQQhuaupuHGrczwGmVt1A2FcTgcYTp9h03Bfaz2FRN2s5xtjxDR4UrE5zv6yn6uL97Hz8OXt4ensajl4HnmVADAU5Tw7TnQjvJvMnAUya5EF6pwnGnFeSgVE6A54wRzQgYmBCijchIYfgpuu72LmKzXEFqbRWSh7J0NTSrZJUW0hDF_oWMGMOo2MGbDvrYpBShsIsYKhc3lhK7C9zuArfOfge-5Zf7vau8gskv3ie8BVd74JJ3ZRFd7UP6dUoKI_XuJ7xz61DC5s-jdvT8-tCd_wJ0xJlL</recordid><startdate>20050201</startdate><enddate>20050201</enddate><creator>Neas, Katherine R.</creator><creator>Smith, Janine M.</creator><creator>Chia, Nicole</creator><creator>Huseyin, Suna</creator><creator>Heaps, Luke St</creator><creator>Peters, Greg</creator><creator>Sholler, Gary</creator><creator>Tzioumi, Dimitra</creator><creator>Sillence, David O.</creator><creator>Mowat, David</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20050201</creationdate><title>Three patients with terminal deletions within the subtelomeric region of chromosome 9q</title><author>Neas, Katherine R. ; Smith, Janine M. ; Chia, Nicole ; Huseyin, Suna ; Heaps, Luke St ; Peters, Greg ; Sholler, Gary ; Tzioumi, Dimitra ; Sillence, David O. ; Mowat, David</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3946-4ea71827c347a52c89ec125344c66fa3a76ebe66b0e3b220720e8ed0078490f83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Biological and medical sciences</topic><topic>chromosome 9q</topic><topic>Chromosome aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 9 - genetics</topic><topic>Developmental Disabilities - pathology</topic><topic>Face - abnormalities</topic><topic>Fatal Outcome</topic><topic>FISH probe</topic><topic>General aspects. Genetic counseling</topic><topic>Heart Defects, Congenital - pathology</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Respiratory Insufficiency - pathology</topic><topic>subtelomeric deletion</topic><topic>Telomere - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Neas, Katherine R.</creatorcontrib><creatorcontrib>Smith, Janine M.</creatorcontrib><creatorcontrib>Chia, Nicole</creatorcontrib><creatorcontrib>Huseyin, Suna</creatorcontrib><creatorcontrib>Heaps, Luke St</creatorcontrib><creatorcontrib>Peters, Greg</creatorcontrib><creatorcontrib>Sholler, Gary</creatorcontrib><creatorcontrib>Tzioumi, Dimitra</creatorcontrib><creatorcontrib>Sillence, David O.</creatorcontrib><creatorcontrib>Mowat, David</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>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</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Neas, Katherine R.</au><au>Smith, Janine M.</au><au>Chia, Nicole</au><au>Huseyin, Suna</au><au>Heaps, Luke St</au><au>Peters, Greg</au><au>Sholler, Gary</au><au>Tzioumi, Dimitra</au><au>Sillence, David O.</au><au>Mowat, David</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Three patients with terminal deletions within the subtelomeric region of chromosome 9q</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am J Med Genet A</addtitle><date>2005-02-01</date><risdate>2005</risdate><volume>132A</volume><issue>4</issue><spage>425</spage><epage>430</epage><pages>425-430</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on three male infants with de novo terminal deletions of chromosome 9q34.3. The clinical features are compared to the nine cases described in the literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for a chromosomal anomaly, case 2 was confirmed by FISH probe following detection of a 9q deletion on standard karyotyping. Deletions in this region result in severe developmental delay, a distinct facial phenotype, cardiac anomalies, obesity, and respiratory failure, which may result in premature death. The delineation of the 9q deletion phenotype will aid diagnosis and genetic counseling as subtelomere FISH screening becomes more widely available. © 2005 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15633179</pmid><doi>10.1002/ajmg.a.30496</doi><tpages>6</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences chromosome 9q Chromosome aberrations Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 9 - genetics Developmental Disabilities - pathology Face - abnormalities Fatal Outcome FISH probe General aspects. Genetic counseling Heart Defects, Congenital - pathology Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Medical genetics Medical sciences Respiratory Insufficiency - pathology subtelomeric deletion Telomere - genetics |
| title | Three patients with terminal deletions within the subtelomeric region of chromosome 9q |
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