Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant
Many autosomal monosomies are presumed to end in arrested growth in the first few mitoses, prior even to the time of implantation, with possibly some proceeding to the stage of occult abortion. The single exception may be monosomy 21, although this has been questioned, with most earlier reports of m...
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| Veröffentlicht in: | Cytogenetic and genome research 2009-01, Vol.125 (1), p.26-32 |
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| creator | Nguyen, H.P. Riess, A. Krüger, M. Bauer, P. Singer, S. Schneider, M. Enders, H. Dufke, A. |
| description | Many autosomal monosomies are presumed to end in arrested growth in the first few mitoses, prior even to the time of implantation, with possibly some proceeding to the stage of occult abortion. The single exception may be monosomy 21, although this has been questioned, with most earlier reports of monosomy 21 recently re-interpreted as being due to an unbalanced translocation involving chromosome 21. Here we report a female infant with a mosaic trisomy 21/monosomy 21 karyotype. While the karyotype 46,XX,i(21)(q10) is detected in all metaphases investigated in lymphocytes, mosaicism with the karyotype 46,XX,i(21)(q10)[31]/45,XX, –21[12] is seen in fibroblasts from a skin biopsy. Dysmorphic facial features and multiple malformations remarkably resemble cases of monosomy 21 that have been described in the literature. This suggests a dominant phenotypic effect of loss of one chromosome 21. Detailed clinical description, results of gene dosage studies, and cytogenetic analysis will be presented. |
| doi_str_mv | 10.1159/000218745 |
| format | Article |
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The single exception may be monosomy 21, although this has been questioned, with most earlier reports of monosomy 21 recently re-interpreted as being due to an unbalanced translocation involving chromosome 21. Here we report a female infant with a mosaic trisomy 21/monosomy 21 karyotype. While the karyotype 46,XX,i(21)(q10) is detected in all metaphases investigated in lymphocytes, mosaicism with the karyotype 46,XX,i(21)(q10)[31]/45,XX, –21[12] is seen in fibroblasts from a skin biopsy. Dysmorphic facial features and multiple malformations remarkably resemble cases of monosomy 21 that have been described in the literature. This suggests a dominant phenotypic effect of loss of one chromosome 21. Detailed clinical description, results of gene dosage studies, and cytogenetic analysis will be presented.</description><identifier>ISSN: 1424-8581</identifier><identifier>EISSN: 1424-859X</identifier><identifier>DOI: 10.1159/000218745</identifier><identifier>PMID: 19617693</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Abnormalities, Multiple - pathology ; Child, Preschool ; Chromosomes, Human, Pair 21 - genetics ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - pathology ; Down Syndrome - genetics ; Down Syndrome - pathology ; Female ; Fibroblasts - ultrastructure ; Humans ; Isochromosomes - genetics ; Karyotyping ; Lymphocytes - ultrastructure ; Microsatellite Repeats ; Monosomy ; Mosaicism ; Original Article ; Phenotype ; Skin - pathology</subject><ispartof>Cytogenetic and genome research, 2009-01, Vol.125 (1), p.26-32</ispartof><rights>2009 S. Karger AG, Basel</rights><rights>Copyright 2009 S. Karger AG, Basel.</rights><rights>Copyright (c) 2009 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c362t-18e20221b51eaaef4c2140a113ad46163812e2a3a2e108d02a16d5103fb3ae0f3</citedby><cites>FETCH-LOGICAL-c362t-18e20221b51eaaef4c2140a113ad46163812e2a3a2e108d02a16d5103fb3ae0f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2429,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19617693$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nguyen, H.P.</creatorcontrib><creatorcontrib>Riess, A.</creatorcontrib><creatorcontrib>Krüger, M.</creatorcontrib><creatorcontrib>Bauer, P.</creatorcontrib><creatorcontrib>Singer, S.</creatorcontrib><creatorcontrib>Schneider, M.</creatorcontrib><creatorcontrib>Enders, H.</creatorcontrib><creatorcontrib>Dufke, A.</creatorcontrib><title>Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant</title><title>Cytogenetic and genome research</title><addtitle>Cytogenet Genome Res</addtitle><description>Many autosomal monosomies are presumed to end in arrested growth in the first few mitoses, prior even to the time of implantation, with possibly some proceeding to the stage of occult abortion. 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Detailed clinical description, results of gene dosage studies, and cytogenetic analysis will be presented.</description><subject>Abnormalities, Multiple - pathology</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 21 - genetics</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Craniofacial Abnormalities - pathology</subject><subject>Down Syndrome - genetics</subject><subject>Down Syndrome - pathology</subject><subject>Female</subject><subject>Fibroblasts - ultrastructure</subject><subject>Humans</subject><subject>Isochromosomes - genetics</subject><subject>Karyotyping</subject><subject>Lymphocytes - ultrastructure</subject><subject>Microsatellite Repeats</subject><subject>Monosomy</subject><subject>Mosaicism</subject><subject>Original Article</subject><subject>Phenotype</subject><subject>Skin - pathology</subject><issn>1424-8581</issn><issn>1424-859X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</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>eNqF0E1Lw0AQBuBFFKvVg3eR4EHwEDsz-5HkKMVqocVLBW9hm2xKapKtu43Qf2-koYIXT_MenhmYl7ErhAdEmYwAgDCOhDxiZyhIhLFM3o8POcYBO_d-DYCxkOqUDTBRGKmEn7Fobr0us2DhSm_rXUA4mtvG9jkom0AHs_KrbFbBxNS6MsG0KXSzvWAnha68ueznkL1Nnhbjl3D2-jwdP87CjCvahhgbAiJcSjRam0JkhAI0Ite5UKh4jGRIc00GIc6BNKpcIvBiybWBgg_Z3f7uxtnP1vhtWpc-M1WlG2Nbn6pIJImMkn8hQcIJZNTB2z9wbVvXdE-kRIJAEWCH7vcoc9Z7Z4p048pau12KkP50nh467-xNf7Bd1ib_lX3JHbjegw_tVsYdQL__DedTgHE</recordid><startdate>20090101</startdate><enddate>20090101</enddate><creator>Nguyen, H.P.</creator><creator>Riess, A.</creator><creator>Krüger, M.</creator><creator>Bauer, P.</creator><creator>Singer, S.</creator><creator>Schneider, M.</creator><creator>Enders, H.</creator><creator>Dufke, A.</creator><general>S. 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pathology</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 21 - genetics</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>Craniofacial Abnormalities - pathology</topic><topic>Down Syndrome - genetics</topic><topic>Down Syndrome - pathology</topic><topic>Female</topic><topic>Fibroblasts - ultrastructure</topic><topic>Humans</topic><topic>Isochromosomes - genetics</topic><topic>Karyotyping</topic><topic>Lymphocytes - ultrastructure</topic><topic>Microsatellite Repeats</topic><topic>Monosomy</topic><topic>Mosaicism</topic><topic>Original Article</topic><topic>Phenotype</topic><topic>Skin - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nguyen, H.P.</creatorcontrib><creatorcontrib>Riess, A.</creatorcontrib><creatorcontrib>Krüger, M.</creatorcontrib><creatorcontrib>Bauer, P.</creatorcontrib><creatorcontrib>Singer, S.</creatorcontrib><creatorcontrib>Schneider, M.</creatorcontrib><creatorcontrib>Enders, H.</creatorcontrib><creatorcontrib>Dufke, A.</creatorcontrib><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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</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 Pharma Collection</collection><collection>Technology Research 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>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</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>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Cytogenetic and genome research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nguyen, H.P.</au><au>Riess, A.</au><au>Krüger, M.</au><au>Bauer, P.</au><au>Singer, S.</au><au>Schneider, M.</au><au>Enders, H.</au><au>Dufke, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant</atitle><jtitle>Cytogenetic and genome research</jtitle><addtitle>Cytogenet Genome Res</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>125</volume><issue>1</issue><spage>26</spage><epage>32</epage><pages>26-32</pages><issn>1424-8581</issn><eissn>1424-859X</eissn><abstract>Many autosomal monosomies are presumed to end in arrested growth in the first few mitoses, prior even to the time of implantation, with possibly some proceeding to the stage of occult abortion. The single exception may be monosomy 21, although this has been questioned, with most earlier reports of monosomy 21 recently re-interpreted as being due to an unbalanced translocation involving chromosome 21. Here we report a female infant with a mosaic trisomy 21/monosomy 21 karyotype. While the karyotype 46,XX,i(21)(q10) is detected in all metaphases investigated in lymphocytes, mosaicism with the karyotype 46,XX,i(21)(q10)[31]/45,XX, –21[12] is seen in fibroblasts from a skin biopsy. Dysmorphic facial features and multiple malformations remarkably resemble cases of monosomy 21 that have been described in the literature. This suggests a dominant phenotypic effect of loss of one chromosome 21. Detailed clinical description, results of gene dosage studies, and cytogenetic analysis will be presented.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>19617693</pmid><doi>10.1159/000218745</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Cytogenetic and genome research, 2009-01, Vol.125 (1), p.26-32 |
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| source | MEDLINE; Karger Journals; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - pathology Child, Preschool Chromosomes, Human, Pair 21 - genetics Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology Down Syndrome - genetics Down Syndrome - pathology Female Fibroblasts - ultrastructure Humans Isochromosomes - genetics Karyotyping Lymphocytes - ultrastructure Microsatellite Repeats Monosomy Mosaicism Original Article Phenotype Skin - pathology |
| title | Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant |
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