Edwards syndrome with double trisomy

Double trisomy is rare and the only case reported in the literature died soon after birth. We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype...

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Veröffentlicht in:	Singapore medical journal 2008-07, Vol.49 (7), p.e190
Hauptverfasser:	Tennakoon, J, Kandasamy, Y, Alcock, G, Koh, T H
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Aberrations Chromosomes, Human, Pair 18 Chromosomes, Human, Y Fatal Outcome Female Humans Infant, Newborn Karyotyping Male Syndrome Trisomy
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creator	Tennakoon, J Kandasamy, Y Alcock, G Koh, T H
description	Double trisomy is rare and the only case reported in the literature died soon after birth. We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype of the patient showed 48, XYY, +18, Ish (DYZ32), (D18Z13), nuc ish (DYZ32), (D18Z13) . The patient had clinical features of trisomy 18. There was no family history of diabetes mellitus and no exposure to chemicals. It has been suggested that the rarity of Y-chromosome involvement in trisomy 18 may be due to discrepancy between the sexes.
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We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype of the patient showed 48, XYY, +18, Ish (DYZ32), (D18Z13), nuc ish (DYZ32), (D18Z13) . The patient had clinical features of trisomy 18. There was no family history of diabetes mellitus and no exposure to chemicals. 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We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype of the patient showed 48, XYY, +18, Ish (DYZ32), (D18Z13), nuc ish (DYZ32), (D18Z13) . The patient had clinical features of trisomy 18. There was no family history of diabetes mellitus and no exposure to chemicals. It has been suggested that the rarity of Y-chromosome involvement in trisomy 18 may be due to discrepancy between the sexes.</description><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Chromosomes, Human, Y</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Syndrome</subject><subject>Trisomy</subject><issn>0037-5675</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1jsuKwkAQAOeg-Fp_QXLYa2DGnkfPUcRVQdjL7lkm6RYjxoSZiOTvd0E9VZ2KGoiJlOByY50Zi2lKFymXTiKOxFih9QaNmYjPDT1CpJSl_kaxqTl7VN05o-ZeXDnrYpWauv8Qw1O4Jp6_OBO_X5uf9S4_fG_369Uhb5XDLi8DQgCtdADLRuEJvUYX_p0KR85rXjKQNGCUJuuhRG1ZeWWZHWAoYSYWz257L2qmYxurOsT--N6FPykaOcc</recordid><startdate>200807</startdate><enddate>200807</enddate><creator>Tennakoon, J</creator><creator>Kandasamy, Y</creator><creator>Alcock, G</creator><creator>Koh, T H</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope></search><sort><creationdate>200807</creationdate><title>Edwards syndrome with double trisomy</title><author>Tennakoon, J ; Kandasamy, Y ; Alcock, G ; Koh, T H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p178t-ca83a3414a36e518f89487a6e5db7d794e2e3d053514d693c846e1916ee738ac3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Chromosomes, Human, Y</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Syndrome</topic><topic>Trisomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tennakoon, J</creatorcontrib><creatorcontrib>Kandasamy, Y</creatorcontrib><creatorcontrib>Alcock, G</creatorcontrib><creatorcontrib>Koh, T H</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>Singapore medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tennakoon, J</au><au>Kandasamy, Y</au><au>Alcock, G</au><au>Koh, T H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Edwards syndrome with double trisomy</atitle><jtitle>Singapore medical journal</jtitle><addtitle>Singapore Med J</addtitle><date>2008-07</date><risdate>2008</risdate><volume>49</volume><issue>7</issue><spage>e190</spage><pages>e190-</pages><issn>0037-5675</issn><abstract>Double trisomy is rare and the only case reported in the literature died soon after birth. We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype of the patient showed 48, XYY, +18, Ish (DYZ32), (D18Z13), nuc ish (DYZ32), (D18Z13) . The patient had clinical features of trisomy 18. There was no family history of diabetes mellitus and no exposure to chemicals. It has been suggested that the rarity of Y-chromosome involvement in trisomy 18 may be due to discrepancy between the sexes.</abstract><cop>Singapore</cop><pmid>18695855</pmid></addata></record>
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source	MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection
subjects	Chromosome Aberrations Chromosomes, Human, Pair 18 Chromosomes, Human, Y Fatal Outcome Female Humans Infant, Newborn Karyotyping Male Syndrome Trisomy
title	Edwards syndrome with double trisomy
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