Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3
We report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cer...
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| Veröffentlicht in: | American journal of medical genetics 1992-07, Vol.43 (4), p.747-750 |
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| container_title | American journal of medical genetics |
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| creator | Meng, Jianguo Fujita, Hiroko Nagahara, Noboru Kashiwai, Akira Yoshioka, Yasushi Funato, Masahisa |
| description | We report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320430419 |
| format | Article |
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The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320430419</identifier><identifier>PMID: 1621768</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>6q terminal deletion syndrome ; Abnormalities, Multiple - genetics ; anus ; Biological and medical sciences ; breakpoints ; case reports ; Child, Preschool ; chromosome 6 ; Chromosome aberrations ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 6 ; deletion ; Female ; heart ; Humans ; imperforate anus ; Infant ; Intellectual Disability - genetics ; Karyotyping ; Male ; man ; Medical genetics ; Medical sciences ; retinitis proliferans ; triatrial heart</subject><ispartof>American journal of medical genetics, 1992-07, Vol.43 (4), p.747-750</ispartof><rights>Copyright © 1992 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3579-85983d08c0bce1c0281aab451bb4cb7c4501aa4a5e21d0a52b4144f1a7b014303</citedby><cites>FETCH-LOGICAL-c3579-85983d08c0bce1c0281aab451bb4cb7c4501aa4a5e21d0a52b4144f1a7b014303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5401292$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1621768$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Meng, Jianguo</creatorcontrib><creatorcontrib>Fujita, Hiroko</creatorcontrib><creatorcontrib>Nagahara, Noboru</creatorcontrib><creatorcontrib>Kashiwai, Akira</creatorcontrib><creatorcontrib>Yoshioka, Yasushi</creatorcontrib><creatorcontrib>Funato, Masahisa</creatorcontrib><title>Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc.</description><subject>6q terminal deletion syndrome</subject><subject>Abnormalities, Multiple - genetics</subject><subject>anus</subject><subject>Biological and medical sciences</subject><subject>breakpoints</subject><subject>case reports</subject><subject>Child, Preschool</subject><subject>chromosome 6</subject><subject>Chromosome aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 6</subject><subject>deletion</subject><subject>Female</subject><subject>heart</subject><subject>Humans</subject><subject>imperforate anus</subject><subject>Infant</subject><subject>Intellectual Disability - genetics</subject><subject>Karyotyping</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>retinitis proliferans</subject><subject>triatrial heart</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1v1DAQhi0EKkvhzAkpB8Qt2_FXnIhT1dItqBRUFThaY8dL3Sbxrp3V0n9fr7JqxaknWzPPO2M_hLynMKcA7Ahv-79zyhkIDoI2L8iMQlOVdcXql2QGVNSlYk3zmrxJ6RaA5gI7IAe0YlRV9Yz8vt6GYoWjd8OYiq0fbwp7E0MfUuhdUa2L0cXeD9gVrevc6MOwp0x0eLcKfhfDsVgzMecFDm2-yTl_S14tsUvu3f48JL_OvlyfnJcXPxZfT44vSsulaspaNjVvobZgrKMWWE0RjZDUGGGNskJCLgiUjtEWUDIjqBBLisrkr3Hgh-TTNHcVw3rj0qh7n6zrOhxc2CStOEjGMvocmIUwUIJl8GgCbQwpRbfUq-h7jPeagt4p1zvl-kl5TnzYj96Y3rVP_OQ49z_u-5gsdsuIg_XpEZMCKGt2iz9P2NZ37v65rfr42_fFf48op7RPo_v3mMZ4pyvFldR_Lhf68ufZFbvipxr4A3IDp7c</recordid><startdate>19920701</startdate><enddate>19920701</enddate><creator>Meng, Jianguo</creator><creator>Fujita, Hiroko</creator><creator>Nagahara, Noboru</creator><creator>Kashiwai, Akira</creator><creator>Yoshioka, Yasushi</creator><creator>Funato, Masahisa</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>19920701</creationdate><title>Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3</title><author>Meng, Jianguo ; Fujita, Hiroko ; Nagahara, Noboru ; Kashiwai, Akira ; Yoshioka, Yasushi ; Funato, Masahisa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3579-85983d08c0bce1c0281aab451bb4cb7c4501aa4a5e21d0a52b4144f1a7b014303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>6q terminal deletion syndrome</topic><topic>Abnormalities, Multiple - genetics</topic><topic>anus</topic><topic>Biological and medical sciences</topic><topic>breakpoints</topic><topic>case reports</topic><topic>Child, Preschool</topic><topic>chromosome 6</topic><topic>Chromosome aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 6</topic><topic>deletion</topic><topic>Female</topic><topic>heart</topic><topic>Humans</topic><topic>imperforate anus</topic><topic>Infant</topic><topic>Intellectual Disability - genetics</topic><topic>Karyotyping</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>retinitis proliferans</topic><topic>triatrial heart</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Meng, Jianguo</creatorcontrib><creatorcontrib>Fujita, Hiroko</creatorcontrib><creatorcontrib>Nagahara, Noboru</creatorcontrib><creatorcontrib>Kashiwai, Akira</creatorcontrib><creatorcontrib>Yoshioka, Yasushi</creatorcontrib><creatorcontrib>Funato, Masahisa</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>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>Meng, Jianguo</au><au>Fujita, Hiroko</au><au>Nagahara, Noboru</au><au>Kashiwai, Akira</au><au>Yoshioka, Yasushi</au><au>Funato, Masahisa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1992-07-01</date><risdate>1992</risdate><volume>43</volume><issue>4</issue><spage>747</spage><epage>750</epage><pages>747-750</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1621768</pmid><doi>10.1002/ajmg.1320430419</doi><tpages>4</tpages></addata></record> |
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| subjects | 6q terminal deletion syndrome Abnormalities, Multiple - genetics anus Biological and medical sciences breakpoints case reports Child, Preschool chromosome 6 Chromosome aberrations Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 6 deletion Female heart Humans imperforate anus Infant Intellectual Disability - genetics Karyotyping Male man Medical genetics Medical sciences retinitis proliferans triatrial heart |
| title | Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3 |
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