Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome
We report on a boy with a direct tandem duplication of 9(q12‐q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5...
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| Veröffentlicht in: | American journal of medical genetics 1993-02, Vol.45 (4), p.456-459 |
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| container_end_page | 459 |
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| container_issue | 4 |
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| container_title | American journal of medical genetics |
| container_volume | 45 |
| creator | Stalker, Heather J. Aymé, Ségolène Delneste, Daniele Scarpelli, Hélène Vekemans, Michel Der Kaloustian, Vazken M. |
| description | We report on a boy with a direct tandem duplication of 9(q12‐q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the “trisomy 9q syndrome” described by Turleau et al. [1975]. © 1993 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320450412 |
| format | Article |
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This patient is compared to the 5 other reported cases with pure partial dup(9q), and the “trisomy 9q syndrome” described by Turleau et al. 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J. Med. Genet</addtitle><description>We report on a boy with a direct tandem duplication of 9(q12‐q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the “trisomy 9q syndrome” described by Turleau et al. [1975]. © 1993 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>case reports</subject><subject>chromosome 9</subject><subject>Chromosome aberrations</subject><subject>Chromosomes, Human, Pair 9</subject><subject>direct duplication</subject><subject>duplication</subject><subject>Failure to Thrive</subject><subject>Hand Deformities, Congenital - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>karyotype-phenotype correlations</subject><subject>Karyotyping</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Multigene Family</subject><subject>Nose - abnormalities</subject><subject>Scrotum - abnormalities</subject><subject>Syndrome</subject><subject>Trisomy</subject><subject>trisomy 9q</subject><subject>trisomy 9q syndrome</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>eNqFkM1PGzEQxa2qiKa0554q-VAheliwvf6EU0RLoAq0QtAeLa933C7sV-xdtfnvSZQoFSdOI8383punh9AHSo4pIezEPTS_j2nOCBeEU_YKTSgxMtOS6ddoQijXmWLGvEFvU3oghK4WbB_tay6FFmSCfnwZ-7rybqi6FncBmwVl2SLPT_EUe5cAR-i7OGDXlrhqdmjCoYt4-AO4HPsjs_iM07ItY9fAO7QXXJ3g_XYeoPuLr3fnl9n8--zqfDrPPOeMZeCcLIk2ebHKbZxmgQbwRlPHaRAqFDooYE7JggSgILU0BSu4lwAlkVzkB-hw49vHbjFCGmxTJQ917VroxmSVkIooxl8EqeRKSbF2PNmAPnYpRQi2j1Xj4tJSYtdl23XZ9n_ZK8XHrfVYNFDu-G27q_un7d0l7-oQXeurtMO4kIbpdcKzDfa3qmH50lc7_XY9exYi26irNMC_ndrFRytVroT9dTOzd_n85w27vbY6fwKey6YD</recordid><startdate>19930215</startdate><enddate>19930215</enddate><creator>Stalker, Heather J.</creator><creator>Aymé, Ségolène</creator><creator>Delneste, Daniele</creator><creator>Scarpelli, Hélène</creator><creator>Vekemans, Michel</creator><creator>Der Kaloustian, Vazken M.</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>19930215</creationdate><title>Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome</title><author>Stalker, Heather J. ; Aymé, Ségolène ; Delneste, Daniele ; Scarpelli, Hélène ; Vekemans, Michel ; Der Kaloustian, Vazken M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4422-eaa6d0893b5049a82f1fec981a41f57fb8f7e2a76b0fe1e6869b2b4c6eed06453</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>case reports</topic><topic>chromosome 9</topic><topic>Chromosome aberrations</topic><topic>Chromosomes, Human, Pair 9</topic><topic>direct duplication</topic><topic>duplication</topic><topic>Failure to Thrive</topic><topic>Hand Deformities, Congenital - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>karyotype-phenotype correlations</topic><topic>Karyotyping</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Multigene Family</topic><topic>Nose - abnormalities</topic><topic>Scrotum - abnormalities</topic><topic>Syndrome</topic><topic>Trisomy</topic><topic>trisomy 9q</topic><topic>trisomy 9q syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Stalker, Heather J.</creatorcontrib><creatorcontrib>Aymé, Ségolène</creatorcontrib><creatorcontrib>Delneste, Daniele</creatorcontrib><creatorcontrib>Scarpelli, Hélène</creatorcontrib><creatorcontrib>Vekemans, Michel</creatorcontrib><creatorcontrib>Der Kaloustian, Vazken M.</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>Stalker, Heather J.</au><au>Aymé, Ségolène</au><au>Delneste, Daniele</au><au>Scarpelli, Hélène</au><au>Vekemans, Michel</au><au>Der Kaloustian, Vazken M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1993-02-15</date><risdate>1993</risdate><volume>45</volume><issue>4</issue><spage>456</spage><epage>459</epage><pages>456-459</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on a boy with a direct tandem duplication of 9(q12‐q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the “trisomy 9q syndrome” described by Turleau et al. [1975]. © 1993 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8465850</pmid><doi>10.1002/ajmg.1320450412</doi><tpages>4</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1993-02, Vol.45 (4), p.456-459 |
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| language | eng |
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| subjects | Abnormalities, Multiple - genetics Biological and medical sciences case reports chromosome 9 Chromosome aberrations Chromosomes, Human, Pair 9 direct duplication duplication Failure to Thrive Hand Deformities, Congenital - genetics Humans Infant, Newborn karyotype-phenotype correlations Karyotyping Male man Medical genetics Medical sciences Multigene Family Nose - abnormalities Scrotum - abnormalities Syndrome Trisomy trisomy 9q trisomy 9q syndrome |
| title | Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome |
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