Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization
We report on a 7‐year‐old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical...
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| Veröffentlicht in: | American journal of medical genetics 1992-11, Vol.44 (4), p.477-481 |
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| container_title | American journal of medical genetics |
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| creator | Mewar, Reema Kline, Antonie D. Jackson, Laird Overhauser, Joan |
| description | We report on a 7‐year‐old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18) (q28.2;q22.2), thus generating information of clinical importance. This illustrates the use of whole chromosome FISH to identify chromosome regions that cannot be determined conclusively using standard cytogenetic banding techniques. © Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320440418 |
| format | Article |
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To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18) (q28.2;q22.2), thus generating information of clinical importance. 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J. Med. Genet</addtitle><description>We report on a 7‐year‐old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18) (q28.2;q22.2), thus generating information of clinical importance. This illustrates the use of whole chromosome FISH to identify chromosome regions that cannot be determined conclusively using standard cytogenetic banding techniques. © Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>Child</subject><subject>chromosome 18</subject><subject>chromosome 4</subject><subject>Chromosome aberrations</subject><subject>Chromosome Aberrations - genetics</subject><subject>Chromosome Aberrations - physiopathology</subject><subject>Chromosome Disorders</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Chromosomes, Human, Pair 4</subject><subject>fluorescence in situ hybridization</subject><subject>Humans</subject><subject>In Situ Hybridization</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Microscopy, Fluorescence</subject><subject>Multigene Family</subject><subject>translocation</subject><subject>Translocation, Genetic - genetics</subject><subject>unbalanced translocation</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkcFvFCEUxonR1LV69mTCwXiblgfMAPHUrrratJqYqkfCsNClzgwrzKSuf73U2bTxVA6Q8H7fx-N9CL0EcgSE0GNz3V8dAaOEc8JBPkILIKqpZEPlY7QgwGUlqFJP0bOcrwmBckEP0AFwTqWCBeqWcfAh9WYMccDRY4Nt2m3HYPE0tKYzg3VrPCYz5C7amZpyGK7wzSZ2DttNin3MsXfYd1NMLltXJDgMOIdxwptdm8I6_PmnfI6eeNNl92J_HqJvH95fLj9W519Wn5Yn55VltZBlp4ZSLwRIa7mgUtaOCeGtp6AaCVKIwjm69qQG1oBtW1DCAXfSWLCeHaI3s-82xV-Ty6PuQ-mrK79xccpasLJkrR4EoWGsbqQo4PEM2hRzTs7rbQq9STsNRN8GoW-D0PdBFMWrvfXU9m59z8-TL_XX-7rJ1nS-TNiGfIcVF1WrpmBvZ-wmdG730Kv65Oxi9V8T1awOeXS_79Qm_dSNYKLWPz6v9CU_rb-ffb3Q79hf0_Oy5w</recordid><startdate>19921101</startdate><enddate>19921101</enddate><creator>Mewar, Reema</creator><creator>Kline, Antonie D.</creator><creator>Jackson, Laird</creator><creator>Overhauser, Joan</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19921101</creationdate><title>Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization</title><author>Mewar, Reema ; Kline, Antonie D. ; Jackson, Laird ; Overhauser, Joan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3578-c32a22f7718cc472885e377fcf219681877357e2df051361cbb197e14e8ac1cf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Biological and medical sciences</topic><topic>Child</topic><topic>chromosome 18</topic><topic>chromosome 4</topic><topic>Chromosome aberrations</topic><topic>Chromosome Aberrations - genetics</topic><topic>Chromosome Aberrations - physiopathology</topic><topic>Chromosome Disorders</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Chromosomes, Human, Pair 4</topic><topic>fluorescence in situ hybridization</topic><topic>Humans</topic><topic>In Situ Hybridization</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Microscopy, Fluorescence</topic><topic>Multigene Family</topic><topic>translocation</topic><topic>Translocation, Genetic - genetics</topic><topic>unbalanced translocation</topic><toplevel>online_resources</toplevel><creatorcontrib>Mewar, Reema</creatorcontrib><creatorcontrib>Kline, Antonie D.</creatorcontrib><creatorcontrib>Jackson, Laird</creatorcontrib><creatorcontrib>Overhauser, Joan</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>Human Genome Abstracts</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>Mewar, Reema</au><au>Kline, Antonie D.</au><au>Jackson, Laird</au><au>Overhauser, Joan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1992-11-01</date><risdate>1992</risdate><volume>44</volume><issue>4</issue><spage>477</spage><epage>481</epage><pages>477-481</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on a 7‐year‐old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18) (q28.2;q22.2), thus generating information of clinical importance. This illustrates the use of whole chromosome FISH to identify chromosome regions that cannot be determined conclusively using standard cytogenetic banding techniques. © Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1442891</pmid><doi>10.1002/ajmg.1320440418</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Biological and medical sciences Child chromosome 18 chromosome 4 Chromosome aberrations Chromosome Aberrations - genetics Chromosome Aberrations - physiopathology Chromosome Disorders Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 4 fluorescence in situ hybridization Humans In Situ Hybridization Male man Medical genetics Medical sciences Microscopy, Fluorescence Multigene Family translocation Translocation, Genetic - genetics unbalanced translocation |
| title | Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization |
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