Detection of submicroscopic subtelomeric chromosome translocations: A new case study
Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G‐banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (F...
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| Veröffentlicht in: | American journal of medical genetics 2000-03, Vol.91 (1), p.51-55 |
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| creator | Warburton, Pamela Mohammed, Shehla Ogilvie, Caroline Mackie |
| description | Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G‐banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (FISH) with whole chromosome paints revealed no apparent abnormality in the father. However, further FISH studies, using multiple subtelomeric probes, demonstrated a derivative chromosome 16 in one sister. Subsequent studies showed that her sister also had a derivative 16 which had been inherited in an unbalanced form from their father, who carried a balanced reciprocal translocation between chromosomes 1 and 16. This report describes the detection of this submicroscopic translocation and the clinical findings in the two sisters. Am. J. Med. Genet. 91:51–55, 2000. © 2000 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(20000306)91:1<51::AID-AJMG9>3.0.CO;2-H |
| format | Article |
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G‐banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (FISH) with whole chromosome paints revealed no apparent abnormality in the father. However, further FISH studies, using multiple subtelomeric probes, demonstrated a derivative chromosome 16 in one sister. Subsequent studies showed that her sister also had a derivative 16 which had been inherited in an unbalanced form from their father, who carried a balanced reciprocal translocation between chromosomes 1 and 16. This report describes the detection of this submicroscopic translocation and the clinical findings in the two sisters. Am. J. Med. Genet. 91:51–55, 2000. © 2000 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(20000306)91:1<51::AID-AJMG9>3.0.CO;2-H</identifier><identifier>PMID: 10751089</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>16 ; Adolescent ; Biological and medical sciences ; Chromosome aberrations ; Chromosomes, Human, Pair 1 - genetics ; Chromosomes, Human, Pair 16 - genetics ; cryptic translocation ; Family Health ; Female ; FISH ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Medical genetics ; Medical sciences ; Pedigree ; subtelomeric probes ; t(1;16) ; Telomere - genetics ; Translocation, Genetic</subject><ispartof>American journal of medical genetics, 2000-03, Vol.91 (1), p.51-55</ispartof><rights>Copyright © 2000 Wiley‐Liss, Inc.</rights><rights>2000 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4339-84bf5a7014a176e5b289a41199f04d98321e69675c718a2b49a6ea33fb3c877b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1289685$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10751089$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Warburton, Pamela</creatorcontrib><creatorcontrib>Mohammed, Shehla</creatorcontrib><creatorcontrib>Ogilvie, Caroline Mackie</creatorcontrib><title>Detection of submicroscopic subtelomeric chromosome translocations: A new case study</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G‐banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (FISH) with whole chromosome paints revealed no apparent abnormality in the father. However, further FISH studies, using multiple subtelomeric probes, demonstrated a derivative chromosome 16 in one sister. Subsequent studies showed that her sister also had a derivative 16 which had been inherited in an unbalanced form from their father, who carried a balanced reciprocal translocation between chromosomes 1 and 16. This report describes the detection of this submicroscopic translocation and the clinical findings in the two sisters. Am. J. Med. Genet. 91:51–55, 2000. © 2000 Wiley‐Liss, Inc.</description><subject>16</subject><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Chromosome aberrations</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>cryptic translocation</subject><subject>Family Health</subject><subject>Female</subject><subject>FISH</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>subtelomeric probes</subject><subject>t(1;16)</subject><subject>Telomere - genetics</subject><subject>Translocation, Genetic</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF1rE0EUhgdRbIz-BdkLkfZi43zsfEUphK0mkdZctFrpzWF2MotbdzNxZ0PNv3fWjVVQcOAwnMN7Xt7zIHRK8IRgTF8dXy7z5QnBWqRKUHVMcXwMixNNpuQNJ9PpbHmWzt5fzPUpm-BJvnpN08UDNLpfeYhGmGQqlVTrI_QkhFuMSRzQx-iIYMkJVnqErs5c52xX-U3iyyTsiqayrQ_Wbyvbt52rfePa2NgvrW98iF3StWYTam9NvxemySzZuLvEmuCS0O3W-6foUWnq4J4d_jH6-O7tVb5Iz1fzZT47T23GmE5VVpTcyJjSECkcL6jSJiNE6xJna60YJU5oIbmVRBlaZNoIZxgrC2aVlAUbo5eD77b133YudNBUwbq6NhvndwFkRMl4rDH6NAj720LrSti2VWPaPRAMPW-Anjf08KCHB794gyZAgBOAyBt-8gYGGPIVUFhE4-eHBJGcW_9hOwCOghcHgQnW1GUkZ6vwWxdPFopH2fUgu6tqt_8r3f_C_SvbMIjO6eBchc59v3c27VcQkkkO1x_mcPlZXGQ3_AYY-wGsDLco</recordid><startdate>20000306</startdate><enddate>20000306</enddate><creator>Warburton, Pamela</creator><creator>Mohammed, Shehla</creator><creator>Ogilvie, Caroline Mackie</creator><general>John Wiley & Sons, Inc</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>7X8</scope></search><sort><creationdate>20000306</creationdate><title>Detection of submicroscopic subtelomeric chromosome translocations: A new case study</title><author>Warburton, Pamela ; Mohammed, Shehla ; Ogilvie, Caroline Mackie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4339-84bf5a7014a176e5b289a41199f04d98321e69675c718a2b49a6ea33fb3c877b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>16</topic><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Chromosome aberrations</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Chromosomes, Human, Pair 16 - genetics</topic><topic>cryptic translocation</topic><topic>Family Health</topic><topic>Female</topic><topic>FISH</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>subtelomeric probes</topic><topic>t(1;16)</topic><topic>Telomere - genetics</topic><topic>Translocation, Genetic</topic><toplevel>online_resources</toplevel><creatorcontrib>Warburton, Pamela</creatorcontrib><creatorcontrib>Mohammed, Shehla</creatorcontrib><creatorcontrib>Ogilvie, Caroline Mackie</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Warburton, Pamela</au><au>Mohammed, Shehla</au><au>Ogilvie, Caroline Mackie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of submicroscopic subtelomeric chromosome translocations: A new case study</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2000-03-06</date><risdate>2000</risdate><volume>91</volume><issue>1</issue><spage>51</spage><epage>55</epage><pages>51-55</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G‐banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (FISH) with whole chromosome paints revealed no apparent abnormality in the father. However, further FISH studies, using multiple subtelomeric probes, demonstrated a derivative chromosome 16 in one sister. Subsequent studies showed that her sister also had a derivative 16 which had been inherited in an unbalanced form from their father, who carried a balanced reciprocal translocation between chromosomes 1 and 16. 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| subjects | 16 Adolescent Biological and medical sciences Chromosome aberrations Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 16 - genetics cryptic translocation Family Health Female FISH Humans In Situ Hybridization, Fluorescence Karyotyping Male Medical genetics Medical sciences Pedigree subtelomeric probes t(1 16) Telomere - genetics Translocation, Genetic |
| title | Detection of submicroscopic subtelomeric chromosome translocations: A new case study |
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