Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings
A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuse...
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| Veröffentlicht in: | Prenatal diagnosis 2000-12, Vol.20 (12), p.992-995 |
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| creator | Froster, Ursula G. Horn, Lars-Christian Holland, Heidrun Strenge, Sibylle Faber, Renaldo |
| description | A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. Copyright © 2000 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/1097-0223(200012)20:12<992::AID-PD950>3.0.CO;2-7 |
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Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. 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Placenta ; Prenatal Diagnosis - methods ; Syndrome ; translocation 15 ; translocation 15;18 ; Translocation, Genetic ; Ultrasonography, Prenatal</subject><ispartof>Prenatal diagnosis, 2000-12, Vol.20 (12), p.992-995</ispartof><rights>Copyright © 2000 John Wiley & Sons, Ltd.</rights><rights>2001 INIST-CNRS</rights><rights>Copyright 2000 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F1097-0223%28200012%2920%3A12%3C992%3A%3AAID-PD950%3E3.0.CO%3B2-7$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F1097-0223%28200012%2920%3A12%3C992%3A%3AAID-PD950%3E3.0.CO%3B2-7$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=813678$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11113912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Froster, Ursula G.</creatorcontrib><creatorcontrib>Horn, Lars-Christian</creatorcontrib><creatorcontrib>Holland, Heidrun</creatorcontrib><creatorcontrib>Strenge, Sibylle</creatorcontrib><creatorcontrib>Faber, Renaldo</creatorcontrib><title>Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. Copyright © 2000 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>bilateral renal agenesis</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 15</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Kidney - abnormalities</subject><subject>Medical sciences</subject><subject>Potter sequence</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis - methods</subject><subject>Syndrome</subject><subject>translocation 15</subject><subject>translocation 15;18</subject><subject>Translocation, Genetic</subject><subject>Ultrasonography, Prenatal</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkeGK1DAUhYso7rj6ChIQZAZsvUnaJh1FWGd1XRmcRRR_hjRJh2gnmW1adV7FpzXdjmN-5IZzv5yQe5KEY8gwAHmJoWIpEELnBAAwWRBYYvK6qshyeXF9md5cVgW8oRlkq80rkrJ7yex05X4yAxzPlBf4LHkUwvfoyEnFHiZnOC5aYTJL_tx0xsletkhbuXU-2IB8g7Rp57hYzG9JmeEFkk5PEh8lnNEF0oNBvY8dNLhattIpMzLI-Z8e9Z10ofVK9ta7JRraKAQ_OP0C7Xxr1NDKDqlD77fGmd6quwfk0Pt9OKDGOm3dNjxOHjSyDebJsZ4nX9-_-7L6kK43V9eri3Vqac4hlTrXinOsiybneQFGlrquVcM4gK6Vhhpzw3Imxw5gqCNlGJYYclypUtPz5Pnku-_87WBCL3Y2KNPGPxk_BMFIXvKyLCL49AgO9c5ose_sTnYH8W-aEXh2BGRQsm3iFJQNJ45jWjIeqc8T9cu25vDfBcSYuRgDFGOAYso8FhH3mLmIkYu7yAUVIFYbQQSbhGiaTqY29Ob3yVR2P0TJKCvEt09XgnPK-frjW0HpX3bGsBk</recordid><startdate>200012</startdate><enddate>200012</enddate><creator>Froster, Ursula G.</creator><creator>Horn, Lars-Christian</creator><creator>Holland, Heidrun</creator><creator>Strenge, Sibylle</creator><creator>Faber, Renaldo</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</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>7X8</scope></search><sort><creationdate>200012</creationdate><title>Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings</title><author>Froster, Ursula G. ; Horn, Lars-Christian ; Holland, Heidrun ; Strenge, Sibylle ; Faber, Renaldo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i3480-ad4dc881d5f48450ea6dbbcf7800dbcd0b18e747a0ea6010b484e71a10419c6d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>bilateral renal agenesis</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 15</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Diseases of mother, fetus and pregnancy</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Kidney - abnormalities</topic><topic>Medical sciences</topic><topic>Potter sequence</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis - methods</topic><topic>Syndrome</topic><topic>translocation 15</topic><topic>translocation 15;18</topic><topic>Translocation, Genetic</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Froster, Ursula G.</creatorcontrib><creatorcontrib>Horn, Lars-Christian</creatorcontrib><creatorcontrib>Holland, Heidrun</creatorcontrib><creatorcontrib>Strenge, Sibylle</creatorcontrib><creatorcontrib>Faber, Renaldo</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>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Froster, Ursula G.</au><au>Horn, Lars-Christian</au><au>Holland, Heidrun</au><au>Strenge, Sibylle</au><au>Faber, Renaldo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2000-12</date><risdate>2000</risdate><volume>20</volume><issue>12</issue><spage>992</spage><epage>995</epage><pages>992-995</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. Copyright © 2000 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11113912</pmid><doi>10.1002/1097-0223(200012)20:12<992::AID-PD950>3.0.CO;2-7</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult bilateral renal agenesis Biological and medical sciences Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 18 Diseases of mother, fetus and pregnancy Female Gene Deletion Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Kidney - abnormalities Medical sciences Potter sequence Pregnancy. Fetus. Placenta Prenatal Diagnosis - methods Syndrome translocation 15 translocation 15 18 Translocation, Genetic Ultrasonography, Prenatal |
| title | Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings |
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