Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax
We report the first case of mosaic trisomy 21 with non‐immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro‐amniotic shunt, was performed. A...
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| Veröffentlicht in: | Prenatal diagnosis 1999-08, Vol.19 (8), p.764-766 |
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| creator | Puddy, V. Lam, B. C. C. Tang, M. Wong, K. Y. Lam, Y. H. Wong, K. Yeung, C. Y. |
| description | We report the first case of mosaic trisomy 21 with non‐immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro‐amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow‐up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism. Copyright © 1999 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/(SICI)1097-0223(199908)19:8<764::AID-PD618>3.0.CO;2-1 |
| format | Article |
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C. C. ; Tang, M. ; Wong, K. Y. ; Lam, Y. H. ; Wong, K. ; Yeung, C. Y.</creator><creatorcontrib>Puddy, V. ; Lam, B. C. C. ; Tang, M. ; Wong, K. Y. ; Lam, Y. H. ; Wong, K. ; Yeung, C. Y.</creatorcontrib><description>We report the first case of mosaic trisomy 21 with non‐immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro‐amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow‐up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism. Copyright © 1999 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/(SICI)1097-0223(199908)19:8<764::AID-PD618>3.0.CO;2-1</identifier><identifier>PMID: 10451525</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Biological and medical sciences ; chylothorax ; Chylothorax - congenital ; Chylothorax - diagnosis ; Down Syndrome - diagnosis ; Emergency and intensive care: neonates and children. Prematurity. Sudden death ; Female ; Humans ; hydrops ; Hydrops Fetalis ; Infant, Newborn ; Intensive care medicine ; Medical sciences ; mosaic trisomy 21 ; Mosaicism ; Polyhydramnios ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis</subject><ispartof>Prenatal diagnosis, 1999-08, Vol.19 (8), p.764-766</ispartof><rights>Copyright © 1999 John Wiley & Sons, Ltd.</rights><rights>1999 INIST-CNRS</rights><rights>Copyright 1999 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3468-d1a006d9e30859167fde7a8f4766a21b86c929dee3617fdb64f0768508a97f263</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F%28SICI%291097-0223%28199908%2919%3A8%3C764%3A%3AAID-PD618%3E3.0.CO%3B2-1$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291097-0223%28199908%2919%3A8%3C764%3A%3AAID-PD618%3E3.0.CO%3B2-1$$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=1911158$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10451525$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Puddy, V.</creatorcontrib><creatorcontrib>Lam, B. C. C.</creatorcontrib><creatorcontrib>Tang, M.</creatorcontrib><creatorcontrib>Wong, K. Y.</creatorcontrib><creatorcontrib>Lam, Y. H.</creatorcontrib><creatorcontrib>Wong, K.</creatorcontrib><creatorcontrib>Yeung, C. Y.</creatorcontrib><title>Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>We report the first case of mosaic trisomy 21 with non‐immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro‐amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow‐up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism. Copyright © 1999 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Biological and medical sciences</subject><subject>chylothorax</subject><subject>Chylothorax - congenital</subject><subject>Chylothorax - diagnosis</subject><subject>Down Syndrome - diagnosis</subject><subject>Emergency and intensive care: neonates and children. Prematurity. Sudden death</subject><subject>Female</subject><subject>Humans</subject><subject>hydrops</subject><subject>Hydrops Fetalis</subject><subject>Infant, Newborn</subject><subject>Intensive care medicine</subject><subject>Medical sciences</subject><subject>mosaic trisomy 21</subject><subject>Mosaicism</subject><subject>Polyhydramnios</subject><subject>Pregnancy</subject><subject>Pregnancy Outcome</subject><subject>Prenatal Diagnosis</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF2LEzEUhgdR3HX1L0guRHYvpuYknXzUD1i6WgurFT_WG-GQzmRodGZSk6m7_femTqmCglfnkPPm4eXJsudAR0Ape3L6YT6dnwHVMqeM8VPQWlN1BnqinkkxnkzO5xf5uwsB6gUf0dF08ZTlcCs7Pvy4nR1TSDtXBRxl92L8mrCKaXk3OwI6LqBgxXH25coEZ5aNJY39YZtIfE1aH40rXWxJ7QPpg4u-3RIGxHXEkM53uWvbTWfJalsFv3ZlOtSm68m161ekXG0b3698MDf3szu1aaJ9sJ8n2adXLz9OX-eXi9l8en6Zl3wsVF6BoVRU2nKqCg1C1pWVRtVjKYRhsFSi1ExX1nIB6bYU45pKoQqqjJY1E_wkezxw18F_39jYY-tiaZvGdNZvIgqtZaEU5YcCZfAxBlvjOrjWhC0CxZ12xJ123EnEnUQctKeBCpN2xKQdf2lHjhSnC2QIiftwX2CzbG31B3XwnAKP9gETS9PUwXRJ8O-cBoBCpdjVELt2jd3-Ve4_3f5VbXhI4HwAu9jbmwPYhG8oJJcFfn47Q_ZGzUAJju_5T5pxt-M</recordid><startdate>199908</startdate><enddate>199908</enddate><creator>Puddy, V.</creator><creator>Lam, B. C. C.</creator><creator>Tang, M.</creator><creator>Wong, K. Y.</creator><creator>Lam, Y. H.</creator><creator>Wong, K.</creator><creator>Yeung, C. Y.</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><scope>7X8</scope></search><sort><creationdate>199908</creationdate><title>Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax</title><author>Puddy, V. ; Lam, B. C. C. ; Tang, M. ; Wong, K. Y. ; Lam, Y. H. ; Wong, K. ; Yeung, C. Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3468-d1a006d9e30859167fde7a8f4766a21b86c929dee3617fdb64f0768508a97f263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</topic><topic>Biological and medical sciences</topic><topic>chylothorax</topic><topic>Chylothorax - congenital</topic><topic>Chylothorax - diagnosis</topic><topic>Down Syndrome - diagnosis</topic><topic>Emergency and intensive care: neonates and children. Prematurity. Sudden death</topic><topic>Female</topic><topic>Humans</topic><topic>hydrops</topic><topic>Hydrops Fetalis</topic><topic>Infant, Newborn</topic><topic>Intensive care medicine</topic><topic>Medical sciences</topic><topic>mosaic trisomy 21</topic><topic>Mosaicism</topic><topic>Polyhydramnios</topic><topic>Pregnancy</topic><topic>Pregnancy Outcome</topic><topic>Prenatal Diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Puddy, V.</creatorcontrib><creatorcontrib>Lam, B. C. C.</creatorcontrib><creatorcontrib>Tang, M.</creatorcontrib><creatorcontrib>Wong, K. Y.</creatorcontrib><creatorcontrib>Lam, Y. H.</creatorcontrib><creatorcontrib>Wong, K.</creatorcontrib><creatorcontrib>Yeung, C. 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Diagn</addtitle><date>1999-08</date><risdate>1999</risdate><volume>19</volume><issue>8</issue><spage>764</spage><epage>766</epage><pages>764-766</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>We report the first case of mosaic trisomy 21 with non‐immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro‐amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow‐up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism. Copyright © 1999 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>10451525</pmid><doi>10.1002/(SICI)1097-0223(199908)19:8<764::AID-PD618>3.0.CO;2-1</doi><tpages>3</tpages></addata></record> |
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| subjects | Adult Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences chylothorax Chylothorax - congenital Chylothorax - diagnosis Down Syndrome - diagnosis Emergency and intensive care: neonates and children. Prematurity. Sudden death Female Humans hydrops Hydrops Fetalis Infant, Newborn Intensive care medicine Medical sciences mosaic trisomy 21 Mosaicism Polyhydramnios Pregnancy Pregnancy Outcome Prenatal Diagnosis |
| title | Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax |
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