Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)
We describe a girl with some manifestations of the dup (9p) syndrome. High‐resolution Giemsa‐banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,‐20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high‐r...
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| Veröffentlicht in: | American journal of medical genetics 1993-03, Vol.45 (6), p.770-773 |
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| container_title | American journal of medical genetics |
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| creator | Petty, Elizabeth M. Gibson, Lisa H. Breg, W. Roy Burns, Jacqueline P. Yang-Feng, Teresa L. |
| description | We describe a girl with some manifestations of the dup (9p) syndrome. High‐resolution Giemsa‐banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,‐20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high‐resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication. © 1993 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320450622 |
| format | Article |
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Roy ; Burns, Jacqueline P. ; Yang-Feng, Teresa L.</creator><creatorcontrib>Petty, Elizabeth M. ; Gibson, Lisa H. ; Breg, W. Roy ; Burns, Jacqueline P. ; Yang-Feng, Teresa L.</creatorcontrib><description>We describe a girl with some manifestations of the dup (9p) syndrome. High‐resolution Giemsa‐banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,‐20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high‐resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication. © 1993 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320450622</identifier><identifier>PMID: 8456860</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Biological and medical sciences ; chromosome 20p ; chromosome 9 ; chromosome 9p ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 9 ; dup (9p) ; duplication ; Facial Bones - abnormalities ; Female ; fluorescence in situ hybridization ; fluorescence in situ hybridization (FISH) ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; man ; Medical genetics ; Medical sciences ; Mosaicism ; Musculoskeletal Abnormalities ; Phenotype ; Skull - abnormalities ; Syndrome ; trisomy 9p</subject><ispartof>American journal of medical genetics, 1993-03, Vol.45 (6), p.770-773</ispartof><rights>Copyright © 1993 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1993 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3572-3c8e6b58dfa799dd5909fc536a71e1dfcf46b8343e15339de5bb5802574a8a393</citedby><cites>FETCH-LOGICAL-c3572-3c8e6b58dfa799dd5909fc536a71e1dfcf46b8343e15339de5bb5802574a8a393</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4638692$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8456860$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Petty, Elizabeth M.</creatorcontrib><creatorcontrib>Gibson, Lisa H.</creatorcontrib><creatorcontrib>Breg, W. Roy</creatorcontrib><creatorcontrib>Burns, Jacqueline P.</creatorcontrib><creatorcontrib>Yang-Feng, Teresa L.</creatorcontrib><title>Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We describe a girl with some manifestations of the dup (9p) syndrome. High‐resolution Giemsa‐banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,‐20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high‐resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication. © 1993 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>chromosome 20p</subject><subject>chromosome 9</subject><subject>chromosome 9p</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 9</subject><subject>dup (9p)</subject><subject>duplication</subject><subject>Facial Bones - abnormalities</subject><subject>Female</subject><subject>fluorescence in situ hybridization</subject><subject>fluorescence in situ hybridization (FISH)</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mosaicism</subject><subject>Musculoskeletal Abnormalities</subject><subject>Phenotype</subject><subject>Skull - abnormalities</subject><subject>Syndrome</subject><subject>trisomy 9p</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtPGzEUhS1EBeGx7qqSFwjBYsDvh1ihqAkgoA9ALC2P7aGmk5nUzgjCr-9EiYJYsbrSvd859-gA8BWjE4wQObXPk6cTTAliHAlCNsAAIy0KJYjaBAOEmSok0Xob7OT8jBDuF2QLbCnGhRJoAEY3bbbRQd9N4ZGeHkMf7VPT5uBhOYdV3bUpZBcaF2BsYI6zDv6Zlyn6-GZnsW3g0ejy7uJ4D3ypbJ3D_mrugofR9_vhRXH9Y3w5PL8uHOWSFNSpIEqufGWl1t5zjXTlOBVW4oB95SomSkUZDZhTqn3gZU8jwiWzylJNd8Hh0nea2n9dyDMziX28urZNaLtsJBecMvk5iAXDFHPcg6dL0KU25xQqM01xYtPcYGQWFZtFxea94l7xbWXdlZPg1_yq0_5-sLrb7GxdJdu4mNcYE1QJvbA5W2IvsQ7zz76a86ub8YcQxVId8yy8rtU2_TVCUsnN4-3Y_Ma_Hu8ZHpqf9D-FtKJi</recordid><startdate>19930315</startdate><enddate>19930315</enddate><creator>Petty, Elizabeth M.</creator><creator>Gibson, Lisa H.</creator><creator>Breg, W. Roy</creator><creator>Burns, Jacqueline P.</creator><creator>Yang-Feng, Teresa L.</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>7X8</scope></search><sort><creationdate>19930315</creationdate><title>Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)</title><author>Petty, Elizabeth M. ; Gibson, Lisa H. ; Breg, W. Roy ; Burns, Jacqueline P. ; Yang-Feng, Teresa L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3572-3c8e6b58dfa799dd5909fc536a71e1dfcf46b8343e15339de5bb5802574a8a393</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>chromosome 20p</topic><topic>chromosome 9</topic><topic>chromosome 9p</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 9</topic><topic>dup (9p)</topic><topic>duplication</topic><topic>Facial Bones - abnormalities</topic><topic>Female</topic><topic>fluorescence in situ hybridization</topic><topic>fluorescence in situ hybridization (FISH)</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mosaicism</topic><topic>Musculoskeletal Abnormalities</topic><topic>Phenotype</topic><topic>Skull - abnormalities</topic><topic>Syndrome</topic><topic>trisomy 9p</topic><toplevel>online_resources</toplevel><creatorcontrib>Petty, Elizabeth M.</creatorcontrib><creatorcontrib>Gibson, Lisa H.</creatorcontrib><creatorcontrib>Breg, W. Roy</creatorcontrib><creatorcontrib>Burns, Jacqueline P.</creatorcontrib><creatorcontrib>Yang-Feng, Teresa L.</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering 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>Petty, Elizabeth M.</au><au>Gibson, Lisa H.</au><au>Breg, W. Roy</au><au>Burns, Jacqueline P.</au><au>Yang-Feng, Teresa L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1993-03-15</date><risdate>1993</risdate><volume>45</volume><issue>6</issue><spage>770</spage><epage>773</epage><pages>770-773</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We describe a girl with some manifestations of the dup (9p) syndrome. High‐resolution Giemsa‐banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,‐20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high‐resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication. © 1993 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8456860</pmid><doi>10.1002/ajmg.1320450622</doi><tpages>4</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Biological and medical sciences chromosome 20p chromosome 9 chromosome 9p Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 9 dup (9p) duplication Facial Bones - abnormalities Female fluorescence in situ hybridization fluorescence in situ hybridization (FISH) Humans In Situ Hybridization, Fluorescence Infant man Medical genetics Medical sciences Mosaicism Musculoskeletal Abnormalities Phenotype Skull - abnormalities Syndrome trisomy 9p |
| title | Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH) |
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