Prenatal diagnosis of complete sole trisomy 1q
The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi‐temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a h...
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| Veröffentlicht in: | Prenatal diagnosis 2001-06, Vol.21 (6), p.435-440 |
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| container_title | Prenatal diagnosis |
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| creator | Pettenati, Mark J. Berry, Margaret Shashi, Vandana Hartley Bowen, J. Harper, Margaret |
| description | The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi‐temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome fortrisomy 1q cases if the duplication involves bands 1q25→q32. Copyright © 2001 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.64 |
| format | Article |
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Major ultrasound findings included: nuchal thickening, bi‐temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome fortrisomy 1q cases if the duplication involves bands 1q25→q32. 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Diagn</addtitle><description>The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi‐temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome fortrisomy 1q cases if the duplication involves bands 1q25→q32. Copyright © 2001 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>chromosome 1</subject><subject>Chromosome aberrations</subject><subject>Chromosomes, Human, Pair 1</subject><subject>Diagnosis, Differential</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant, Newborn</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>trisomy</subject><subject>Trisomy - diagnosis</subject><subject>Trisomy - genetics</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptz0tLw0AUBeBBFFu1f0GyUFylziuZmaVUbYWipfgAN8NkHjKaNHEmov33RlPUhat7Fx_ncAAYIThGEOLTxoxzugWGCAqWQozJNhhC1P2EZ2gA9mJ87hjHgu2CAUKUcEHpEIwXwa5Uq8rEePW0qqOPSe0SXVdNaVubxLq0SRt8rKt1gl4PwI5TZbSjzd0Hd5cXt5NZOr-ZXk3O5qkmDNOU5IJkDhqlEc1cbjAnjkCXKQsZK7hzxopMF4QKpy2mBdMZM8ggbA21ecHJPjjuc3WoYwzWySb4SoW1RFB-7ZWNkTnt3GHvmreisuZXbQZ24GgDVNSqdEGttI9_0rgglHTspGfvvrTr_8vk4vy7Me2lj639-JEqvMicEZbJh-upFMvl7P5xMZEz8gklTnf7</recordid><startdate>200106</startdate><enddate>200106</enddate><creator>Pettenati, Mark J.</creator><creator>Berry, Margaret</creator><creator>Shashi, Vandana</creator><creator>Hartley Bowen, J.</creator><creator>Harper, Margaret</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>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>200106</creationdate><title>Prenatal diagnosis of complete sole trisomy 1q</title><author>Pettenati, Mark J. ; Berry, Margaret ; Shashi, Vandana ; Hartley Bowen, J. ; Harper, Margaret</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3724-36935f0dac145f6d283f30f5ae077b8ffde95cb349fce24b7c57d1d12ed4e6b83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>chromosome 1</topic><topic>Chromosome aberrations</topic><topic>Chromosomes, Human, Pair 1</topic><topic>Diagnosis, Differential</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant, Newborn</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>trisomy</topic><topic>Trisomy - diagnosis</topic><topic>Trisomy - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pettenati, Mark J.</creatorcontrib><creatorcontrib>Berry, Margaret</creatorcontrib><creatorcontrib>Shashi, Vandana</creatorcontrib><creatorcontrib>Hartley Bowen, J.</creatorcontrib><creatorcontrib>Harper, Margaret</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><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pettenati, Mark J.</au><au>Berry, Margaret</au><au>Shashi, Vandana</au><au>Hartley Bowen, J.</au><au>Harper, Margaret</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of complete sole trisomy 1q</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2001-06</date><risdate>2001</risdate><volume>21</volume><issue>6</issue><spage>435</spage><epage>440</epage><pages>435-440</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi‐temporal narrowing, a single choroid plexus cyst, andmild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome fortrisomy 1q cases if the duplication involves bands 1q25→q32. Copyright © 2001 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11438944</pmid><doi>10.1002/pd.64</doi><tpages>6</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adult Biological and medical sciences chromosome 1 Chromosome aberrations Chromosomes, Human, Pair 1 Diagnosis, Differential Fatal Outcome Female Humans In Situ Hybridization, Fluorescence Infant, Newborn Medical genetics Medical sciences Pregnancy Prenatal Diagnosis trisomy Trisomy - diagnosis Trisomy - genetics |
| title | Prenatal diagnosis of complete sole trisomy 1q |
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