A gene for hypospadias in a child with presumed tetrasomy 18p
The proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiti...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics 1979, Vol.4 (2), p.141-146 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 146 |
|---|---|
| container_issue | 2 |
| container_start_page | 141 |
| container_title | American journal of medical genetics |
| container_volume | 4 |
| creator | Côté, G. B. Petmezaki, S. Bastakis, N. |
| description | The proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiting. Their hypospadias is due to an autosomal dominant gene. The proband also had a small extra metacentric chromosome presumed to be an isochromosome 18p. |
| doi_str_mv | 10.1002/ajmg.1320040206 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_74845838</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>74845838</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3816-83aeb0f3605f9225647f828021076f8e6a582ffcbb38ab032e758f4d51dde473</originalsourceid><addsrcrecordid>eNqFkL1PwzAQxS3EVynMLAye2NKe7SR2hBjaCgqogJAqwWY5id2mJE2wU5X-96RKVcTEdNK99366ewhdEugRANpXi2LWI4wC-EAhPEAdAlHoiZCKQ9QB4guP0yg6RWfOLQBIs6An6JhGjDDooNsBnumlxqa0eL6pSlepNFMOZ0uscDLP8hSvs3qOK6vdqtAprnVtlSuLDSaiOkdHRuVOX-xmF03v76ajB2_yOn4cDSZewgRpjmFKx2BYCIGJKA1CnxtBBVACPDRChyoQ1JgkjplQMTCqeSCMnwYkTbXPWRddt9jKll8r7WpZZC7Rea6Wulw5yX3hB4KJxthvjYktnbPayMpmhbIbSUBu65LbuuRvXU3iaodexc17e3_bTyPftPI6y_XmP5ocPD2P_8C9Np25Wn_v08p-ypAzHsj3l7FkIz4cfohAvrEfizWEWw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>74845838</pqid></control><display><type>article</type><title>A gene for hypospadias in a child with presumed tetrasomy 18p</title><source>MEDLINE</source><source>Alma/SFX Local Collection</source><creator>Côté, G. B. ; Petmezaki, S. ; Bastakis, N.</creator><creatorcontrib>Côté, G. B. ; Petmezaki, S. ; Bastakis, N.</creatorcontrib><description>The proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiting. Their hypospadias is due to an autosomal dominant gene. The proband also had a small extra metacentric chromosome presumed to be an isochromosome 18p.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320040206</identifier><identifier>PMID: 293130</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; autosomal dominant hypospadias ; Child ; Chromosome Aberrations ; Chromosomes, Human, 16-18 ; Genes, Dominant ; Genetic Markers ; Humans ; Hypospadias - genetics ; Infant, Newborn ; isochromosome 18p ; Male ; Pedigree ; Syndrome</subject><ispartof>American journal of medical genetics, 1979, Vol.4 (2), p.141-146</ispartof><rights>Copyright © 1979 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3816-83aeb0f3605f9225647f828021076f8e6a582ffcbb38ab032e758f4d51dde473</citedby><cites>FETCH-LOGICAL-c3816-83aeb0f3605f9225647f828021076f8e6a582ffcbb38ab032e758f4d51dde473</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/293130$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Côté, G. B.</creatorcontrib><creatorcontrib>Petmezaki, S.</creatorcontrib><creatorcontrib>Bastakis, N.</creatorcontrib><title>A gene for hypospadias in a child with presumed tetrasomy 18p</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>The proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiting. Their hypospadias is due to an autosomal dominant gene. The proband also had a small extra metacentric chromosome presumed to be an isochromosome 18p.</description><subject>Abnormalities, Multiple - genetics</subject><subject>autosomal dominant hypospadias</subject><subject>Child</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, 16-18</subject><subject>Genes, Dominant</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Hypospadias - genetics</subject><subject>Infant, Newborn</subject><subject>isochromosome 18p</subject><subject>Male</subject><subject>Pedigree</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1979</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkL1PwzAQxS3EVynMLAye2NKe7SR2hBjaCgqogJAqwWY5id2mJE2wU5X-96RKVcTEdNK99366ewhdEugRANpXi2LWI4wC-EAhPEAdAlHoiZCKQ9QB4guP0yg6RWfOLQBIs6An6JhGjDDooNsBnumlxqa0eL6pSlepNFMOZ0uscDLP8hSvs3qOK6vdqtAprnVtlSuLDSaiOkdHRuVOX-xmF03v76ajB2_yOn4cDSZewgRpjmFKx2BYCIGJKA1CnxtBBVACPDRChyoQ1JgkjplQMTCqeSCMnwYkTbXPWRddt9jKll8r7WpZZC7Rea6Wulw5yX3hB4KJxthvjYktnbPayMpmhbIbSUBu65LbuuRvXU3iaodexc17e3_bTyPftPI6y_XmP5ocPD2P_8C9Np25Wn_v08p-ypAzHsj3l7FkIz4cfohAvrEfizWEWw</recordid><startdate>1979</startdate><enddate>1979</enddate><creator>Côté, G. B.</creator><creator>Petmezaki, S.</creator><creator>Bastakis, N.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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>7X8</scope></search><sort><creationdate>1979</creationdate><title>A gene for hypospadias in a child with presumed tetrasomy 18p</title><author>Côté, G. B. ; Petmezaki, S. ; Bastakis, N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3816-83aeb0f3605f9225647f828021076f8e6a582ffcbb38ab032e758f4d51dde473</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1979</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>autosomal dominant hypospadias</topic><topic>Child</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, 16-18</topic><topic>Genes, Dominant</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Hypospadias - genetics</topic><topic>Infant, Newborn</topic><topic>isochromosome 18p</topic><topic>Male</topic><topic>Pedigree</topic><topic>Syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Côté, G. B.</creatorcontrib><creatorcontrib>Petmezaki, S.</creatorcontrib><creatorcontrib>Bastakis, N.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</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>Côté, G. B.</au><au>Petmezaki, S.</au><au>Bastakis, N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A gene for hypospadias in a child with presumed tetrasomy 18p</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1979</date><risdate>1979</risdate><volume>4</volume><issue>2</issue><spage>141</spage><epage>146</epage><pages>141-146</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>The proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiting. Their hypospadias is due to an autosomal dominant gene. The proband also had a small extra metacentric chromosome presumed to be an isochromosome 18p.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>293130</pmid><doi>10.1002/ajmg.1320040206</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1979, Vol.4 (2), p.141-146 |
| issn | 0148-7299 1096-8628 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_74845838 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - genetics autosomal dominant hypospadias Child Chromosome Aberrations Chromosomes, Human, 16-18 Genes, Dominant Genetic Markers Humans Hypospadias - genetics Infant, Newborn isochromosome 18p Male Pedigree Syndrome |
| title | A gene for hypospadias in a child with presumed tetrasomy 18p |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T08%3A24%3A27IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20gene%20for%20hypospadias%20in%20a%20child%20with%20presumed%20tetrasomy%2018p&rft.jtitle=American%20journal%20of%20medical%20genetics&rft.au=C%C3%B4t%C3%A9,%20G.%20B.&rft.date=1979&rft.volume=4&rft.issue=2&rft.spage=141&rft.epage=146&rft.pages=141-146&rft.issn=0148-7299&rft.eissn=1096-8628&rft_id=info:doi/10.1002/ajmg.1320040206&rft_dat=%3Cproquest_cross%3E74845838%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=74845838&rft_id=info:pmid/293130&rfr_iscdi=true |