Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis
We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred fo...
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| Veröffentlicht in: | American journal of medical genetics 1991-02, Vol.38 (2-3), p.456-463 |
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| container_issue | 2-3 |
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| container_title | American journal of medical genetics |
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| creator | Krawczun, Michael S. Jenkins, Edmund C. Duncan, Charlotte J. Stark-Houck, Sandra L. Kunaporn, Suphat Schwartz-Richstein, Carol Gu, Hong Brown, W. Ted |
| description | We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples. |
| doi_str_mv | 10.1002/ajmg.1320380264 |
| format | Article |
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Ted</creator><creatorcontrib>Krawczun, Michael S. ; Jenkins, Edmund C. ; Duncan, Charlotte J. ; Stark-Houck, Sandra L. ; Kunaporn, Suphat ; Schwartz-Richstein, Carol ; Gu, Hong ; Brown, W. Ted</creatorcontrib><description>We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320380264</identifier><identifier>PMID: 2018087</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Amniotic Fluid - cytology ; autosomal fragility ; Biological and medical sciences ; Cells, Cultured ; Chorionic Villi - ultrastructure ; Chromosome Fragile Sites ; Chromosome Fragility ; Female ; Fetal Blood - cytology ; Fragile X Syndrome - diagnosis ; Fragile X Syndrome - pathology ; fragile(X)(q27) ; Humans ; Lymphocytes - ultrastructure ; Male ; Medical genetics ; Medical sciences ; Pregnancy ; Prenatal Diagnosis</subject><ispartof>American journal of medical genetics, 1991-02, Vol.38 (2-3), p.456-463</ispartof><rights>Copyright © 1991 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1992 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4424-ba21b437de8472dc1750f333d3eb016674d35f2d028334860befa1607b6834e3</citedby><cites>FETCH-LOGICAL-c4424-ba21b437de8472dc1750f333d3eb016674d35f2d028334860befa1607b6834e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5413746$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2018087$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Krawczun, Michael S.</creatorcontrib><creatorcontrib>Jenkins, Edmund C.</creatorcontrib><creatorcontrib>Duncan, Charlotte J.</creatorcontrib><creatorcontrib>Stark-Houck, Sandra L.</creatorcontrib><creatorcontrib>Kunaporn, Suphat</creatorcontrib><creatorcontrib>Schwartz-Richstein, Carol</creatorcontrib><creatorcontrib>Gu, Hong</creatorcontrib><creatorcontrib>Brown, W. Ted</creatorcontrib><title>Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.</description><subject>Amniotic Fluid - cytology</subject><subject>autosomal fragility</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Chorionic Villi - ultrastructure</subject><subject>Chromosome Fragile Sites</subject><subject>Chromosome Fragility</subject><subject>Female</subject><subject>Fetal Blood - cytology</subject><subject>Fragile X Syndrome - diagnosis</subject><subject>Fragile X Syndrome - pathology</subject><subject>fragile(X)(q27)</subject><subject>Humans</subject><subject>Lymphocytes - ultrastructure</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi1EVZbCmROSD4hb2vFHbEecqhQWUCkSqlROWE7irFySePEkgv57XO1qoaeeRvI878zoMSGvGJwyAH7mbsfNKRMchAGu5BOyYlCpwihunpIVMGkKzavqGXmOeAvA8gM_JsccmAGjV-THRcA5hWaZQ5xo7Klb5ohxdAPtk9uEwVMMs0caJopb34bRT0jbZZiX5Dvax0S3yU9u_i_wnXbBbaaIAV-Qo94N6F_u6wm5_vD-uv5YXH5df6rPL4tWSi6LxnHWSKE7b6TmXct0Cb0QohO-AaaUlp0oe94BN0JIo6DxvWMKdKOMkF6ckLe7sdsUfy0eZzsGbP0wuMnHBa2BklXM8EdBVmZzFVQZPNuBbYqIyfd2m8Lo0p1lYO_N23vz9p_5nHi9H700o-8O_F517r_Z9x22bsiypjbgASslE1qqjL3bYb-zyrvHttrzz1_WD44odun8q_7PIe3ST6u00KW9uVrbK6gv2Le6tjfiLwvbrB4</recordid><startdate>19910201</startdate><enddate>19910201</enddate><creator>Krawczun, Michael S.</creator><creator>Jenkins, Edmund C.</creator><creator>Duncan, Charlotte J.</creator><creator>Stark-Houck, Sandra L.</creator><creator>Kunaporn, Suphat</creator><creator>Schwartz-Richstein, Carol</creator><creator>Gu, Hong</creator><creator>Brown, W. Ted</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19910201</creationdate><title>Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis</title><author>Krawczun, Michael S. ; Jenkins, Edmund C. ; Duncan, Charlotte J. ; Stark-Houck, Sandra L. ; Kunaporn, Suphat ; Schwartz-Richstein, Carol ; Gu, Hong ; Brown, W. Ted</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4424-ba21b437de8472dc1750f333d3eb016674d35f2d028334860befa1607b6834e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Amniotic Fluid - cytology</topic><topic>autosomal fragility</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Chorionic Villi - ultrastructure</topic><topic>Chromosome Fragile Sites</topic><topic>Chromosome Fragility</topic><topic>Female</topic><topic>Fetal Blood - cytology</topic><topic>Fragile X Syndrome - diagnosis</topic><topic>Fragile X Syndrome - pathology</topic><topic>fragile(X)(q27)</topic><topic>Humans</topic><topic>Lymphocytes - ultrastructure</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><toplevel>online_resources</toplevel><creatorcontrib>Krawczun, Michael S.</creatorcontrib><creatorcontrib>Jenkins, Edmund C.</creatorcontrib><creatorcontrib>Duncan, Charlotte J.</creatorcontrib><creatorcontrib>Stark-Houck, Sandra L.</creatorcontrib><creatorcontrib>Kunaporn, Suphat</creatorcontrib><creatorcontrib>Schwartz-Richstein, Carol</creatorcontrib><creatorcontrib>Gu, Hong</creatorcontrib><creatorcontrib>Brown, W. 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The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>2018087</pmid><doi>10.1002/ajmg.1320380264</doi><tpages>8</tpages></addata></record> |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Amniotic Fluid - cytology autosomal fragility Biological and medical sciences Cells, Cultured Chorionic Villi - ultrastructure Chromosome Fragile Sites Chromosome Fragility Female Fetal Blood - cytology Fragile X Syndrome - diagnosis Fragile X Syndrome - pathology fragile(X)(q27) Humans Lymphocytes - ultrastructure Male Medical genetics Medical sciences Pregnancy Prenatal Diagnosis |
| title | Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis |
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