Are the occasional aneuploid cells in peripheral blood cultures significant?
Cytogenetic results of 1,500 consecutive clinical cases from a young population were analyzed for rare cells with hypermodality (≥ 47 chromosomes) or hypomodality (≤ 45 chromosomes). Such instances of non‐modal chromosome gains or losses were random relative to referral diagnosis or modal karyotype....
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| Veröffentlicht in: | American journal of medical genetics 1984-12, Vol.19 (4), p.715-719 |
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| container_title | American journal of medical genetics |
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| creator | Wenger, Sharon L. Golden, Wendy L. Dennis, Suzanne P. Steele, Mark W. |
| description | Cytogenetic results of 1,500 consecutive clinical cases from a young population were analyzed for rare cells with hypermodality (≥ 47 chromosomes) or hypomodality (≤ 45 chromosomes). Such instances of non‐modal chromosome gains or losses were random relative to referral diagnosis or modal karyotype. However, chromosome loss was correlated with size, smaller chromosomes being lost more frequently (correlation coefficient = 0.794). Sex chromosome gain or loss in vitro was of particular interest since mosaicism in vivo is frequently found in patients presenting with manifestations of Turner or Klinefelter syndrome. Cases with a referral diagnosis of sex chromosome abnormality showed no increased gain or loss of an X or Y chromosome when compared to other types of clinical cases. Our analyses suggest that when one non‐modal cell is found with a gain or loss of a chromosome relevant to the referral diagnosis, then the results on a count of 40 cells should differentiate in vitro artifact from probable in vivo mosaicism with 95% degree of confidence. |
| doi_str_mv | 10.1002/ajmg.1320190411 |
| format | Article |
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Biological and molecular evolution ; Human ; Humans ; hyperploidy ; hypoploidy ; Karyotyping ; Lymphocytes - ultrastructure ; Male ; Mosaicism ; Probability ; Sex Chromosome Aberrations - genetics</subject><ispartof>American journal of medical genetics, 1984-12, Vol.19 (4), p.715-719</ispartof><rights>Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1986 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4421-555be33c87fc25c19854d926aa6a0eaa6c1f4c69e3cfd06b5842e6090990bc743</citedby><cites>FETCH-LOGICAL-c4421-555be33c87fc25c19854d926aa6a0eaa6c1f4c69e3cfd06b5842e6090990bc743</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27915,27916</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8501316$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6517096$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wenger, Sharon L.</creatorcontrib><creatorcontrib>Golden, Wendy L.</creatorcontrib><creatorcontrib>Dennis, Suzanne P.</creatorcontrib><creatorcontrib>Steele, Mark W.</creatorcontrib><title>Are the occasional aneuploid cells in peripheral blood cultures significant?</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Cytogenetic results of 1,500 consecutive clinical cases from a young population were analyzed for rare cells with hypermodality (≥ 47 chromosomes) or hypomodality (≤ 45 chromosomes). Such instances of non‐modal chromosome gains or losses were random relative to referral diagnosis or modal karyotype. However, chromosome loss was correlated with size, smaller chromosomes being lost more frequently (correlation coefficient = 0.794). Sex chromosome gain or loss in vitro was of particular interest since mosaicism in vivo is frequently found in patients presenting with manifestations of Turner or Klinefelter syndrome. Cases with a referral diagnosis of sex chromosome abnormality showed no increased gain or loss of an X or Y chromosome when compared to other types of clinical cases. Our analyses suggest that when one non‐modal cell is found with a gain or loss of a chromosome relevant to the referral diagnosis, then the results on a count of 40 cells should differentiate in vitro artifact from probable in vivo mosaicism with 95% degree of confidence.</description><subject>Aneuploidy</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations - genetics</subject><subject>chromosome abnormality</subject><subject>Chromosome Disorders</subject><subject>Cytogenetics</subject><subject>False Positive Reactions</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Human</subject><subject>Humans</subject><subject>hyperploidy</subject><subject>hypoploidy</subject><subject>Karyotyping</subject><subject>Lymphocytes - ultrastructure</subject><subject>Male</subject><subject>Mosaicism</subject><subject>Probability</subject><subject>Sex Chromosome Aberrations - genetics</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1984</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1PGzEQxa2qFQ3QMyekPVS9LYy_bfVQRagEqrRcWsHN8jpeMHV2F3tXLf89jhKl6onLWJr3e-Onh9AJhjMMQM7t4_r-DFMCWAPD-A2aYdCiVoKot2gGmKlaEq3fo8OcHwFwWZADdCA4loWboeU8-Wp88FXvnM2h72ysbOenIfZhVTkfY65CVw0-heHBp6I2se-LMsVxSj5XOdx3oQ3OduOXY_SutTH7D7v3CP26_Prz4qpe3iyuL-bL2jFGcM05bzylTsnWEe6wVpytNBHWCgu-TIdb5oT21LUrEA1XjHgBGrSGxklGj9Cn7d0h9U-Tz6NZh7zJWpL3UzaSKyqByldBzKCwRBTwfAu61OecfGuGFNY2PRsMZlO02RRt_hVdHKe701Oz9qs9v2u26B93us3OxjbZzoW8xxQHTPEG-7zF_oTon1_71cy_fV_8F6LeukMe_d-926bfRkgqubn9sTByccvv4O7SKPoCwxCmBg</recordid><startdate>198412</startdate><enddate>198412</enddate><creator>Wenger, Sharon L.</creator><creator>Golden, Wendy L.</creator><creator>Dennis, Suzanne P.</creator><creator>Steele, Mark W.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>198412</creationdate><title>Are the occasional aneuploid cells in peripheral blood cultures significant?</title><author>Wenger, Sharon L. ; Golden, Wendy L. ; Dennis, Suzanne P. ; Steele, Mark W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4421-555be33c87fc25c19854d926aa6a0eaa6c1f4c69e3cfd06b5842e6090990bc743</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1984</creationdate><topic>Aneuploidy</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations - genetics</topic><topic>chromosome abnormality</topic><topic>Chromosome Disorders</topic><topic>Cytogenetics</topic><topic>False Positive Reactions</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Human</topic><topic>Humans</topic><topic>hyperploidy</topic><topic>hypoploidy</topic><topic>Karyotyping</topic><topic>Lymphocytes - ultrastructure</topic><topic>Male</topic><topic>Mosaicism</topic><topic>Probability</topic><topic>Sex Chromosome Aberrations - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Wenger, Sharon L.</creatorcontrib><creatorcontrib>Golden, Wendy L.</creatorcontrib><creatorcontrib>Dennis, Suzanne P.</creatorcontrib><creatorcontrib>Steele, Mark W.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wenger, Sharon L.</au><au>Golden, Wendy L.</au><au>Dennis, Suzanne P.</au><au>Steele, Mark W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Are the occasional aneuploid cells in peripheral blood cultures significant?</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. 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Cases with a referral diagnosis of sex chromosome abnormality showed no increased gain or loss of an X or Y chromosome when compared to other types of clinical cases. Our analyses suggest that when one non‐modal cell is found with a gain or loss of a chromosome relevant to the referral diagnosis, then the results on a count of 40 cells should differentiate in vitro artifact from probable in vivo mosaicism with 95% degree of confidence.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>6517096</pmid><doi>10.1002/ajmg.1320190411</doi><tpages>5</tpages></addata></record> |
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| subjects | Aneuploidy Biological and medical sciences Cells, Cultured Child Child, Preschool Chromosome Aberrations - genetics chromosome abnormality Chromosome Disorders Cytogenetics False Positive Reactions Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human Humans hyperploidy hypoploidy Karyotyping Lymphocytes - ultrastructure Male Mosaicism Probability Sex Chromosome Aberrations - genetics |
| title | Are the occasional aneuploid cells in peripheral blood cultures significant? |
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