Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism
Descriptions of chimaeras and how they are generated have been reported over many years. 8 18-22 In the more recent reports, the use of DNA polymorphisms to distinguish haematological from dispermic chimaerism is particularly emphasised. 21 22 The most likely events appear to be fusion of a fertilis...
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| Veröffentlicht in: | Journal of medical genetics 2001-05, Vol.38 (5), p.e15-15 |
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| creator | Coulter-Mackie, M B Rip, J Beis, M J Ferreira, P Ludman, M D |
| description | Descriptions of chimaeras and how they are generated have been reported over many years. 8 18-22 In the more recent reports, the use of DNA polymorphisms to distinguish haematological from dispermic chimaerism is particularly emphasised. 21 22 The most likely events appear to be fusion of a fertilised ovum with a fertilised polar body, either the one arising from meiosis II and directly associated with the secondary oocyte or one of those arising from meiosis I. The former would be expected to result in the presence of one maternal allele for all markers tested. 19 22 The latter would yield both maternal alleles for all markers barring recombination. Fusion of two distinct embryos would be expected to yield representation of both alleles of some markers and not others. 18 20 In the case presented here, all the maternal alleles were represented for all markers examined except for DXS987 (Xp22) where only one was found. Since we cannot rule out recombination in this case, the chimaera may have been generated by fusion of two distinct zygotes as in two earlier cases 18 19 or by fertilisation of a meiosis I polar body. |
| doi_str_mv | 10.1136/jmg.38.5.e15 |
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The former would be expected to result in the presence of one maternal allele for all markers tested. 19 22 The latter would yield both maternal alleles for all markers barring recombination. Fusion of two distinct embryos would be expected to yield representation of both alleles of some markers and not others. 18 20 In the case presented here, all the maternal alleles were represented for all markers examined except for DXS987 (Xp22) where only one was found. Since we cannot rule out recombination in this case, the chimaera may have been generated by fusion of two distinct zygotes as in two earlier cases 18 19 or by fertilisation of a meiosis I polar body.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.38.5.e15</identifier><identifier>PMID: 11333871</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adolescent ; Age of Onset ; Alleles ; Cell division ; Cells, Cultured ; Cerebroside-Sulfatase - genetics ; Cerebroside-Sulfatase - metabolism ; Child ; Chimera - genetics ; Chromosomes ; Chromosomes, Human, Pair 22 - genetics ; Deoxyribonucleic acid ; DNA ; Electronic Letter ; Enzymes ; Families & family life ; Female ; Fibroblasts ; Hematology ; Heterozygote ; Humans ; Karyotyping ; Leukocytes ; Leukodystrophy, Metachromatic - enzymology ; Leukodystrophy, Metachromatic - genetics ; Leukodystrophy, Metachromatic - pathology ; Male ; Microsatellite Repeats - genetics ; Mutation ; Mutation, Missense - genetics ; Nuclear Family ; Pedigree ; Spermatozoa - physiology</subject><ispartof>Journal of medical genetics, 2001-05, Vol.38 (5), p.e15-15</ispartof><rights>Journal of Medical Genetics</rights><rights>Copyright: 2001 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b3625-bfc5a90db30593597d9bb8efd8737dd1223f4174988def56c5a019559910e453</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734879/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734879/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11333871$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Coulter-Mackie, M B</creatorcontrib><creatorcontrib>Rip, J</creatorcontrib><creatorcontrib>Beis, M J</creatorcontrib><creatorcontrib>Ferreira, P</creatorcontrib><creatorcontrib>Ludman, M D</creatorcontrib><title>Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Descriptions of chimaeras and how they are generated have been reported over many years. 8 18-22 In the more recent reports, the use of DNA polymorphisms to distinguish haematological from dispermic chimaerism is particularly emphasised. 21 22 The most likely events appear to be fusion of a fertilised ovum with a fertilised polar body, either the one arising from meiosis II and directly associated with the secondary oocyte or one of those arising from meiosis I. The former would be expected to result in the presence of one maternal allele for all markers tested. 19 22 The latter would yield both maternal alleles for all markers barring recombination. Fusion of two distinct embryos would be expected to yield representation of both alleles of some markers and not others. 18 20 In the case presented here, all the maternal alleles were represented for all markers examined except for DXS987 (Xp22) where only one was found. Since we cannot rule out recombination in this case, the chimaera may have been generated by fusion of two distinct zygotes as in two earlier cases 18 19 or by fertilisation of a meiosis I polar body.</description><subject>Adolescent</subject><subject>Age of Onset</subject><subject>Alleles</subject><subject>Cell division</subject><subject>Cells, Cultured</subject><subject>Cerebroside-Sulfatase - genetics</subject><subject>Cerebroside-Sulfatase - metabolism</subject><subject>Child</subject><subject>Chimera - genetics</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Electronic Letter</subject><subject>Enzymes</subject><subject>Families & family life</subject><subject>Female</subject><subject>Fibroblasts</subject><subject>Hematology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Leukocytes</subject><subject>Leukodystrophy, Metachromatic - enzymology</subject><subject>Leukodystrophy, Metachromatic - genetics</subject><subject>Leukodystrophy, Metachromatic - pathology</subject><subject>Male</subject><subject>Microsatellite Repeats - genetics</subject><subject>Mutation</subject><subject>Mutation, Missense - genetics</subject><subject>Nuclear Family</subject><subject>Pedigree</subject><subject>Spermatozoa - physiology</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kUuLFDEUhYMoTju6cy0BF26sNqlUqhIXgrZPGBWGwYWbkEpuplPWy6RK7H_vlW5G3ZhNAvfLOedyCHnI2ZZzUT_rhuutUFu5BS5vkQ2valXUZVXdJhvGyrIopRZn5F7OHWNcNLy-S87woxCq4RsSPq79Euce6ACLdfs0DXaJjvawuskf8pKmeX-gtu-hh0zjSO1I19GGAG4BT_Padvh6Ti11NgOdAvUxz5AGFHH7OFhIMQ_3yZ1g-wwPTvc5uXr75mr3vrj4_O7D7uVF0Yq6lEUbnLSa-VYwTC1143XbKgheNaLxnpelCBVvKq2UhyBrpBnXUmrNGVRSnJMXR9l5bQfwDsYl2d7MCXOkg5lsNP9Oxrg319MPwxtRqUajwOOTQJq-r5AX001rGjEyIgr9OR6knh4pl6acE4QbB87M71IMlmKEMtJgKYg_-jvVH_jUAgLFEYh5gZ83c5u-mRoXl-bTl515rS-_vqqZMpfIPzny7dD93_oX0tWmGQ</recordid><startdate>20010501</startdate><enddate>20010501</enddate><creator>Coulter-Mackie, M B</creator><creator>Rip, J</creator><creator>Beis, M J</creator><creator>Ferreira, P</creator><creator>Ludman, M D</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>5PM</scope></search><sort><creationdate>20010501</creationdate><title>Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism</title><author>Coulter-Mackie, M B ; Rip, J ; Beis, M J ; Ferreira, P ; Ludman, M D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b3625-bfc5a90db30593597d9bb8efd8737dd1223f4174988def56c5a019559910e453</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>Age of Onset</topic><topic>Alleles</topic><topic>Cell division</topic><topic>Cells, Cultured</topic><topic>Cerebroside-Sulfatase - genetics</topic><topic>Cerebroside-Sulfatase - metabolism</topic><topic>Child</topic><topic>Chimera - genetics</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Electronic Letter</topic><topic>Enzymes</topic><topic>Families & family life</topic><topic>Female</topic><topic>Fibroblasts</topic><topic>Hematology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Leukocytes</topic><topic>Leukodystrophy, Metachromatic - enzymology</topic><topic>Leukodystrophy, Metachromatic - genetics</topic><topic>Leukodystrophy, Metachromatic - pathology</topic><topic>Male</topic><topic>Microsatellite Repeats - genetics</topic><topic>Mutation</topic><topic>Mutation, Missense - genetics</topic><topic>Nuclear Family</topic><topic>Pedigree</topic><topic>Spermatozoa - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Coulter-Mackie, M B</creatorcontrib><creatorcontrib>Rip, J</creatorcontrib><creatorcontrib>Beis, M J</creatorcontrib><creatorcontrib>Ferreira, P</creatorcontrib><creatorcontrib>Ludman, M D</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Coulter-Mackie, M B</au><au>Rip, J</au><au>Beis, M J</au><au>Ferreira, P</au><au>Ludman, M D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2001-05-01</date><risdate>2001</risdate><volume>38</volume><issue>5</issue><spage>e15</spage><epage>15</epage><pages>e15-15</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Descriptions of chimaeras and how they are generated have been reported over many years. 8 18-22 In the more recent reports, the use of DNA polymorphisms to distinguish haematological from dispermic chimaerism is particularly emphasised. 21 22 The most likely events appear to be fusion of a fertilised ovum with a fertilised polar body, either the one arising from meiosis II and directly associated with the secondary oocyte or one of those arising from meiosis I. The former would be expected to result in the presence of one maternal allele for all markers tested. 19 22 The latter would yield both maternal alleles for all markers barring recombination. Fusion of two distinct embryos would be expected to yield representation of both alleles of some markers and not others. 18 20 In the case presented here, all the maternal alleles were represented for all markers examined except for DXS987 (Xp22) where only one was found. Since we cannot rule out recombination in this case, the chimaera may have been generated by fusion of two distinct zygotes as in two earlier cases 18 19 or by fertilisation of a meiosis I polar body.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11333871</pmid><doi>10.1136/jmg.38.5.e15</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Age of Onset Alleles Cell division Cells, Cultured Cerebroside-Sulfatase - genetics Cerebroside-Sulfatase - metabolism Child Chimera - genetics Chromosomes Chromosomes, Human, Pair 22 - genetics Deoxyribonucleic acid DNA Electronic Letter Enzymes Families & family life Female Fibroblasts Hematology Heterozygote Humans Karyotyping Leukocytes Leukodystrophy, Metachromatic - enzymology Leukodystrophy, Metachromatic - genetics Leukodystrophy, Metachromatic - pathology Male Microsatellite Repeats - genetics Mutation Mutation, Missense - genetics Nuclear Family Pedigree Spermatozoa - physiology |
| title | Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism |
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