Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer
Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented w...
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| Veröffentlicht in: | Cytogenetic and genome research 2020, Vol.160 (1), p.11-17 |
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| creator | Altiner, Sule Kutlay, Nuket Yurur Ruhi, Hatice Ilgin |
| description | Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype. |
| doi_str_mv | 10.1159/000505805 |
| format | Article |
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Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.</description><identifier>ISSN: 1424-8581</identifier><identifier>EISSN: 1424-859X</identifier><identifier>DOI: 10.1159/000505805</identifier><identifier>PMID: 31982875</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>Cell Biology ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders - genetics ; Chromosomes, Human, Pair 8 - genetics ; Chromosomes, Human, Pair 8 - ultrastructure ; Cytogenetics ; Female ; Genetic Markers ; Genetics & Heredity ; Genotype ; Humans ; Karyotyping ; Life Sciences & Biomedicine ; Lymphocytes - metabolism ; Metaphase ; Mosaicism ; Neutropenia - complications ; Neutropenia - diagnosis ; Neutropenia - genetics ; Novel Insights from Clinical Practice ; Oligonucleotide Array Sequence Analysis ; Oral Ulcer - complications ; Oral Ulcer - diagnosis ; Oral Ulcer - genetics ; Phenotype ; Science & Technology ; Stomatitis, Aphthous - complications ; Stomatitis, Aphthous - diagnosis ; Stomatitis, Aphthous - genetics</subject><ispartof>Cytogenetic and genome research, 2020, Vol.160 (1), p.11-17</ispartof><rights>2020 S. Karger AG, Basel</rights><rights>2020 S. Karger AG, Basel.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>0</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000526986400003</woscitedreferencesoriginalsourcerecordid><cites>FETCH-LOGICAL-c266t-ed548e7e180bf2b51774d72d800b252c48c5a0316254782698cda4797d1e71de3</cites><orcidid>0000-0002-9438-5962</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,2430,4025,27927,27928,27929</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31982875$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Altiner, Sule</creatorcontrib><creatorcontrib>Kutlay, Nuket Yurur</creatorcontrib><creatorcontrib>Ruhi, Hatice Ilgin</creatorcontrib><title>Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer</title><title>Cytogenetic and genome research</title><addtitle>CYTOGENET GENOME RES</addtitle><addtitle>Cytogenet Genome Res</addtitle><description>Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.</description><subject>Cell Biology</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Chromosomes, Human, Pair 8 - ultrastructure</subject><subject>Cytogenetics</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>Genetics & Heredity</subject><subject>Genotype</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Life Sciences & Biomedicine</subject><subject>Lymphocytes - metabolism</subject><subject>Metaphase</subject><subject>Mosaicism</subject><subject>Neutropenia - complications</subject><subject>Neutropenia - diagnosis</subject><subject>Neutropenia - genetics</subject><subject>Novel Insights from Clinical Practice</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Oral Ulcer - complications</subject><subject>Oral Ulcer - diagnosis</subject><subject>Oral Ulcer - genetics</subject><subject>Phenotype</subject><subject>Science & Technology</subject><subject>Stomatitis, Aphthous - complications</subject><subject>Stomatitis, Aphthous - diagnosis</subject><subject>Stomatitis, Aphthous - genetics</subject><issn>1424-8581</issn><issn>1424-859X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>AOWDO</sourceid><sourceid>EIF</sourceid><recordid>eNqNkc1u1DAUhS0Eoj-wYI-Ql1RowHbsxFlWaQuVWoooldhFjn3TMU3sYDuteJU-LR5miFiy8pX1nePjcxF6Rcl7SkX9gRAiiJBEPEH7lDO-kqL-_nSZJd1DBzH-IIRKLsrnaK-gtWSyEvvo8dJHZTW-HtUw4Ot5guDmEYIKv_ClCncQcLMOfvTRj4BPINh7MLjPN_gsj_jERu1dsm72c8Rf4dZ6F7Hv_1VJbB1W-ItKFlzCDzat8WeYU_ATOKuwcgZfBTXg42md1hufm0FDeIGe9WqI8HJ3HqKbs9NvzafVxdXH8-b4YqVZWaYVGMElVEAl6XrWCVpV3FTMSEI6JpjmUgtFCloywSvJylpqo3hVV4ZCRQ0Uh-jt1ncK_ucMMbVj_hQMg3KQw7Ss4CWrJSdFRo-2qA4-xgB9OwU75q5aStrNKtplFZl9s7OduxHMQv7tPgPvtsADdL6POpejYcE2RpuwJc_Tn6fl_9ONTbls7xo_u5Slr7fSOxVuISyiXdDfkq6urg</recordid><startdate>2020</startdate><enddate>2020</enddate><creator>Altiner, Sule</creator><creator>Kutlay, Nuket Yurur</creator><creator>Ruhi, Hatice Ilgin</creator><general>Karger</general><scope>AOWDO</scope><scope>BLEPL</scope><scope>DTL</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><orcidid>https://orcid.org/0000-0002-9438-5962</orcidid></search><sort><creationdate>2020</creationdate><title>Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer</title><author>Altiner, Sule ; Kutlay, Nuket Yurur ; Ruhi, Hatice Ilgin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c266t-ed548e7e180bf2b51774d72d800b252c48c5a0316254782698cda4797d1e71de3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Cell Biology</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Disorders - genetics</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Chromosomes, Human, Pair 8 - ultrastructure</topic><topic>Cytogenetics</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>Genetics & Heredity</topic><topic>Genotype</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Life Sciences & Biomedicine</topic><topic>Lymphocytes - metabolism</topic><topic>Metaphase</topic><topic>Mosaicism</topic><topic>Neutropenia - complications</topic><topic>Neutropenia - diagnosis</topic><topic>Neutropenia - genetics</topic><topic>Novel Insights from Clinical Practice</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Oral Ulcer - complications</topic><topic>Oral Ulcer - diagnosis</topic><topic>Oral Ulcer - genetics</topic><topic>Phenotype</topic><topic>Science & Technology</topic><topic>Stomatitis, Aphthous - complications</topic><topic>Stomatitis, Aphthous - diagnosis</topic><topic>Stomatitis, Aphthous - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Altiner, Sule</creatorcontrib><creatorcontrib>Kutlay, Nuket Yurur</creatorcontrib><creatorcontrib>Ruhi, Hatice Ilgin</creatorcontrib><collection>Web of Science - Science Citation Index Expanded - 2020</collection><collection>Web of Science Core Collection</collection><collection>Science Citation Index Expanded</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Cytogenetic and genome research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Altiner, Sule</au><au>Kutlay, Nuket Yurur</au><au>Ruhi, Hatice Ilgin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer</atitle><jtitle>Cytogenetic and genome research</jtitle><stitle>CYTOGENET GENOME RES</stitle><addtitle>Cytogenet Genome Res</addtitle><date>2020</date><risdate>2020</risdate><volume>160</volume><issue>1</issue><spage>11</spage><epage>17</epage><pages>11-17</pages><issn>1424-8581</issn><eissn>1424-859X</eissn><abstract>Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.</abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>31982875</pmid><doi>10.1159/000505805</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-9438-5962</orcidid></addata></record> |
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| subjects | Cell Biology Child, Preschool Chromosome Aberrations Chromosome Disorders - genetics Chromosomes, Human, Pair 8 - genetics Chromosomes, Human, Pair 8 - ultrastructure Cytogenetics Female Genetic Markers Genetics & Heredity Genotype Humans Karyotyping Life Sciences & Biomedicine Lymphocytes - metabolism Metaphase Mosaicism Neutropenia - complications Neutropenia - diagnosis Neutropenia - genetics Novel Insights from Clinical Practice Oligonucleotide Array Sequence Analysis Oral Ulcer - complications Oral Ulcer - diagnosis Oral Ulcer - genetics Phenotype Science & Technology Stomatitis, Aphthous - complications Stomatitis, Aphthous - diagnosis Stomatitis, Aphthous - genetics |
| title | Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer |
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