Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting
Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic...
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| Veröffentlicht in: | Journal of medical genetics 1998-10, Vol.35 (10), p.857-861 |
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| creator | Davies, A F Imaizumi, K Mirza, G Stephens, R S Kuroki, Y Matsuno, M Ragoussis, J |
| description | Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome. |
| doi_str_mv | 10.1136/jmg.35.10.857 |
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Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.35.10.857</identifier><identifier>PMID: 9783713</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Chromosomes, Human, Pair 6 ; Chromosomes, Human, Pair 9 ; Cleft Palate - genetics ; Craniofacial Abnormalities - genetics ; Face - pathology ; Facial bones, jaws, teeth, parodontium: diseases, semeiology ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Medical sciences ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Translocation, Genetic</subject><ispartof>Journal of medical genetics, 1998-10, Vol.35 (10), p.857-861</ispartof><rights>1998 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Oct 1998</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b510t-663a72de9fdf6e93964863e03bc99ffea98b5b2ebf5f5e86817aefb11cf6927a3</citedby><cites>FETCH-LOGICAL-b510t-663a72de9fdf6e93964863e03bc99ffea98b5b2ebf5f5e86817aefb11cf6927a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051465/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051465/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2389949$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9783713$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Davies, A F</creatorcontrib><creatorcontrib>Imaizumi, K</creatorcontrib><creatorcontrib>Mirza, G</creatorcontrib><creatorcontrib>Stephens, R S</creatorcontrib><creatorcontrib>Kuroki, Y</creatorcontrib><creatorcontrib>Matsuno, M</creatorcontrib><creatorcontrib>Ragoussis, J</creatorcontrib><title>Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 6</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Cleft Palate - genetics</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Face - pathology</subject><subject>Facial bones, jaws, teeth, parodontium: diseases, semeiology</subject><subject>Female</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Karyotyping</subject><subject>Medical sciences</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Translocation, Genetic</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkUuP0zAUhS0EGsrAkiVSJBBik-JH_NogoYoyiNGw4LG1HPe6dUnijp1UzL_HpVV5bFjZ1-fT8bEPQk8JnhPCxOttv54zPi-j4vIempFGqFrQprmPZhhTWlOu2UP0KOctxoRJIi7QhZaq7NgMrZZTGjeQKtiHFQwOKh9TVU6qMOxjt4cehrGKvtpMvR0qt0mxjzn2UIkdbQr0i7UwhtjF9d2BjCl664LtKteBH8OwfoweeNtleHJaL9HX5bsvi6v6-tP7D4u313XLCR5rIZiVdAXar7wAzbRolGCAWeu09h6sVi1vKbSeew5KKCIt-JYQ54Wm0rJL9Obou5vaHlauRE-2M7sUepvuTLTB_K0MYWPWcW8I5uXbeDF4eTJI8XaCPJo-ZAddZweIUzZCa0V4cwCf_wNu45SG8jhDpMRcca5Voeoj5VLMOYE_RyHYHMozpTzD-GEs5RX-2Z_5z_SpraK_OOk2O9v5ZAcX8hmjTGnd6N_XhjzCj7Ns03cjJJPc3HxbGH7D6Ed9tTSfC__qyLf99j8JfwJE27_q</recordid><startdate>19981001</startdate><enddate>19981001</enddate><creator>Davies, A F</creator><creator>Imaizumi, K</creator><creator>Mirza, G</creator><creator>Stephens, R S</creator><creator>Kuroki, Y</creator><creator>Matsuno, M</creator><creator>Ragoussis, J</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19981001</creationdate><title>Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting</title><author>Davies, A F ; Imaizumi, K ; Mirza, G ; Stephens, R S ; Kuroki, Y ; Matsuno, M ; Ragoussis, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b510t-663a72de9fdf6e93964863e03bc99ffea98b5b2ebf5f5e86817aefb11cf6927a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 6</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Cleft Palate - genetics</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>Face - pathology</topic><topic>Facial bones, jaws, teeth, parodontium: diseases, semeiology</topic><topic>Female</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Karyotyping</topic><topic>Medical sciences</topic><topic>Non tumoral diseases</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Davies, A F</creatorcontrib><creatorcontrib>Imaizumi, K</creatorcontrib><creatorcontrib>Mirza, G</creatorcontrib><creatorcontrib>Stephens, R S</creatorcontrib><creatorcontrib>Kuroki, Y</creatorcontrib><creatorcontrib>Matsuno, M</creatorcontrib><creatorcontrib>Ragoussis, J</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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Science Journals</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Davies, A F</au><au>Imaizumi, K</au><au>Mirza, G</au><au>Stephens, R S</au><au>Kuroki, Y</au><au>Matsuno, M</au><au>Ragoussis, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1998-10-01</date><risdate>1998</risdate><volume>35</volume><issue>10</issue><spage>857</spage><epage>861</epage><pages>857-861</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>9783713</pmid><doi>10.1136/jmg.35.10.857</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Cleft Palate - genetics Craniofacial Abnormalities - genetics Face - pathology Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Humans In Situ Hybridization, Fluorescence Infant Karyotyping Medical sciences Non tumoral diseases Otorhinolaryngology. Stomatology Translocation, Genetic |
| title | Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting |
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