Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report
When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25‐year‐old translocation carrier, who carried a fetus with partial trisomy 3q and...
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| Veröffentlicht in: | The journal of obstetrics and gynaecology research 2008-08, Vol.34 (4pt2), p.653-657 |
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| container_title | The journal of obstetrics and gynaecology research |
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| creator | Park, Ji Kwon Lee, Jae Ik Jo, Hyun Cheol Shin, Jeong Kyu Lee, Soon Ae Lee, Jong Hak Paik, Won Young |
| description | When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25‐year‐old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization. For cryptic unbalanced defects, in which an apparently balanced translocation has been transmitted from a normal parent to a child with a phenotypic abnormality, the use of array comparative genomic hybridization to assess the presence of cryptic aberrations in the fetus combines the speed of DNA analysis with a comprehensive scan for submicroscopic genomic abnormalities. |
| doi_str_mv | 10.1111/j.1447-0756.2008.00902.x |
| format | Article |
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Journal compilation © 2008 Japan Society of Obstetrics and Gynecology</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4502-d2f9df74d57bd7d51dba0920f58596cbd829929212ba09c0972b685938c755c53</citedby><cites>FETCH-LOGICAL-c4502-d2f9df74d57bd7d51dba0920f58596cbd829929212ba09c0972b685938c755c53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1447-0756.2008.00902.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1447-0756.2008.00902.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18840174$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Park, Ji Kwon</creatorcontrib><creatorcontrib>Lee, Jae Ik</creatorcontrib><creatorcontrib>Jo, Hyun Cheol</creatorcontrib><creatorcontrib>Shin, Jeong Kyu</creatorcontrib><creatorcontrib>Lee, Soon Ae</creatorcontrib><creatorcontrib>Lee, Jong Hak</creatorcontrib><creatorcontrib>Paik, Won Young</creatorcontrib><title>Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report</title><title>The journal of obstetrics and gynaecology research</title><addtitle>J Obstet Gynaecol Res</addtitle><description>When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25‐year‐old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization. For cryptic unbalanced defects, in which an apparently balanced translocation has been transmitted from a normal parent to a child with a phenotypic abnormality, the use of array comparative genomic hybridization to assess the presence of cryptic aberrations in the fetus combines the speed of DNA analysis with a comprehensive scan for submicroscopic genomic abnormalities.</description><subject>Adult</subject><subject>Aneuploidy</subject><subject>apparently balanced translocation</subject><subject>array comparative genomic hybridization</subject><subject>Chorionic Villi Sampling</subject><subject>Comparative Genomic Hybridization</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Pregnancy</subject><subject>prenatal diagnosis</subject><subject>Translocation, Genetic</subject><issn>1341-8076</issn><issn>1447-0756</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU9PHSEUxUmjqdb2KzSsupsp8GAA040x1rYxcaNrwvCnj5eZYYR56nTnN5fxvdSlsuHec8-5kPwAgBjVuJzvmxpTyivEWVMThESNkESkfvwAjv8PDkq9orgSiDdH4FPOG4Qwl1h8BEdYCFoaegyeLrwPRpsZRg91SnqGJvajTnoK9w7-dUPsg4HruU3Bhn9FjQMMA9TQu2mb4UOY1lAv0tqlMDkL9VjSbpi6Gba604Mp2pT0kLtoXuKn8AwanR1Mboxp-gwOve6y-7K_T8Dtz4ub81_V1fXl7_Ozq8pQhkhliZfWc2oZby23DNtWI0mQZ4LJxrRWECmJJJgsukGSk7Ypo5UwnDHDVifg227vmOLd1uVJ9SEb15UvurjNqpENpYKjN424rCZMNMUodkaTYs7JeTWm0Os0K4zUwklt1IJDLTjUwkm9cFKPJfp1_8a27Z19De7BFMOPneEhdG5-92L15_qyFKtn9nailQ</recordid><startdate>200808</startdate><enddate>200808</enddate><creator>Park, Ji Kwon</creator><creator>Lee, Jae Ik</creator><creator>Jo, Hyun Cheol</creator><creator>Shin, Jeong Kyu</creator><creator>Lee, Soon Ae</creator><creator>Lee, Jong Hak</creator><creator>Paik, Won Young</creator><general>Blackwell Publishing Asia</general><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>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200808</creationdate><title>Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report</title><author>Park, Ji Kwon ; Lee, Jae Ik ; Jo, Hyun Cheol ; Shin, Jeong Kyu ; Lee, Soon Ae ; Lee, Jong Hak ; Paik, Won Young</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4502-d2f9df74d57bd7d51dba0920f58596cbd829929212ba09c0972b685938c755c53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Aneuploidy</topic><topic>apparently balanced translocation</topic><topic>array comparative genomic hybridization</topic><topic>Chorionic Villi Sampling</topic><topic>Comparative Genomic Hybridization</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Pregnancy</topic><topic>prenatal diagnosis</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Park, Ji Kwon</creatorcontrib><creatorcontrib>Lee, Jae Ik</creatorcontrib><creatorcontrib>Jo, Hyun Cheol</creatorcontrib><creatorcontrib>Shin, Jeong Kyu</creatorcontrib><creatorcontrib>Lee, Soon Ae</creatorcontrib><creatorcontrib>Lee, Jong Hak</creatorcontrib><creatorcontrib>Paik, Won Young</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Nucleic Acids 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>The journal of obstetrics and gynaecology research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Park, Ji Kwon</au><au>Lee, Jae Ik</au><au>Jo, Hyun Cheol</au><au>Shin, Jeong Kyu</au><au>Lee, Soon Ae</au><au>Lee, Jong Hak</au><au>Paik, Won Young</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report</atitle><jtitle>The journal of obstetrics and gynaecology research</jtitle><addtitle>J Obstet Gynaecol Res</addtitle><date>2008-08</date><risdate>2008</risdate><volume>34</volume><issue>4pt2</issue><spage>653</spage><epage>657</epage><pages>653-657</pages><issn>1341-8076</issn><eissn>1447-0756</eissn><abstract>When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25‐year‐old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization. For cryptic unbalanced defects, in which an apparently balanced translocation has been transmitted from a normal parent to a child with a phenotypic abnormality, the use of array comparative genomic hybridization to assess the presence of cryptic aberrations in the fetus combines the speed of DNA analysis with a comprehensive scan for submicroscopic genomic abnormalities.</abstract><cop>Melbourne, Australia</cop><pub>Blackwell Publishing Asia</pub><pmid>18840174</pmid><doi>10.1111/j.1447-0756.2008.00902.x</doi><tpages>5</tpages></addata></record> |
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| identifier | ISSN: 1341-8076 |
| ispartof | The journal of obstetrics and gynaecology research, 2008-08, Vol.34 (4pt2), p.653-657 |
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| source | MEDLINE; Access via Wiley Online Library |
| subjects | Adult Aneuploidy apparently balanced translocation array comparative genomic hybridization Chorionic Villi Sampling Comparative Genomic Hybridization Female Humans Infant, Newborn Pregnancy prenatal diagnosis Translocation, Genetic |
| title | Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report |
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