Duplication 3q(q21 → qter) without limb anomalies
We report on a 2.5‐month‐old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,X...
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| Veröffentlicht in: | American journal of medical genetics 1991-03, Vol.38 (4), p.518-522 |
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| container_title | American journal of medical genetics |
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| creator | Ismail, Suzan R. Kousseff, Boris G. Kotb, Samia M. Kholeif, Soha F. |
| description | We report on a 2.5‐month‐old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies. |
| doi_str_mv | 10.1002/ajmg.1320380403 |
| format | Article |
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Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320380403</identifier><identifier>PMID: 2063889</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; chromosome 3 ; chromosome 6 ; Chromosome Banding ; Chromosomes, Human, Pair 3 - ultrastructure ; Chromosomes, Human, Pair 6 - ultrastructure ; Complex syndromes ; heterochrony ; Humans ; Infant ; limb anomaly ; Limb Deformities, Congenital ; Male ; Medical genetics ; Medical sciences ; Multigene Family ; translocation ; Translocation, Genetic</subject><ispartof>American journal of medical genetics, 1991-03, Vol.38 (4), p.518-522</ispartof><rights>Copyright © 1991 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1992 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4113-c7d630101691b58d9668a6ef6879118c7da179dd6e5fdbe271b1e0e4ef6f87563</citedby><cites>FETCH-LOGICAL-c4113-c7d630101691b58d9668a6ef6879118c7da179dd6e5fdbe271b1e0e4ef6f87563</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5410897$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2063889$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ismail, Suzan R.</creatorcontrib><creatorcontrib>Kousseff, Boris G.</creatorcontrib><creatorcontrib>Kotb, Samia M.</creatorcontrib><creatorcontrib>Kholeif, Soha F.</creatorcontrib><title>Duplication 3q(q21 → qter) without limb anomalies</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on a 2.5‐month‐old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.</description><subject>Biological and medical sciences</subject><subject>chromosome 3</subject><subject>chromosome 6</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 3 - ultrastructure</subject><subject>Chromosomes, Human, Pair 6 - ultrastructure</subject><subject>Complex syndromes</subject><subject>heterochrony</subject><subject>Humans</subject><subject>Infant</subject><subject>limb anomaly</subject><subject>Limb Deformities, Congenital</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Multigene Family</subject><subject>translocation</subject><subject>Translocation, Genetic</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1Kw0AUhQdRtP6sXQlZiOgiem8mmR9clVbrT1sRFJfDJJnoaNK0mQT1BXwAH9EnMdJSceXqwj3fOfdyCNlFOEaA4EQ_F4_HSAOgAkKgK6SDIJkvWCBWSQcwFD4PpNwgm849A2C7CNbJegCMCiE7hPabaW4TXdty4tHZ4SxA7-vj05vVpjryXm39VDa1l9si9vSkLHRujdsma5nOndlZzC1yf35217vwhzeDy1536CchIvUTnjIKCMgkxpFIJWNCM5MxwSWiaGWNXKYpM1GWxibgGKMBE7ZEJnjE6BY5mOdOq3LWGFerwrrE5LmemLJxSgBrqQhb8GQOJlXpXGUyNa1soat3haB-alI_NanfmlrH3iK6iQuTLvlFL62-v9C1S3SeVXqSWLfEohBBSN5ip3Ps1ebm_b-rqns1Gvx5wp-7ravN29KtqxfFOOWRehgP1N34ejS8uh2qPv0GP4CPSQ</recordid><startdate>19910315</startdate><enddate>19910315</enddate><creator>Ismail, Suzan R.</creator><creator>Kousseff, Boris G.</creator><creator>Kotb, Samia M.</creator><creator>Kholeif, Soha F.</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>7X8</scope></search><sort><creationdate>19910315</creationdate><title>Duplication 3q(q21 → qter) without limb anomalies</title><author>Ismail, Suzan R. ; Kousseff, Boris G. ; Kotb, Samia M. ; Kholeif, Soha F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4113-c7d630101691b58d9668a6ef6879118c7da179dd6e5fdbe271b1e0e4ef6f87563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Biological and medical sciences</topic><topic>chromosome 3</topic><topic>chromosome 6</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 3 - ultrastructure</topic><topic>Chromosomes, Human, Pair 6 - ultrastructure</topic><topic>Complex syndromes</topic><topic>heterochrony</topic><topic>Humans</topic><topic>Infant</topic><topic>limb anomaly</topic><topic>Limb Deformities, Congenital</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Multigene Family</topic><topic>translocation</topic><topic>Translocation, Genetic</topic><toplevel>online_resources</toplevel><creatorcontrib>Ismail, Suzan R.</creatorcontrib><creatorcontrib>Kousseff, Boris G.</creatorcontrib><creatorcontrib>Kotb, Samia M.</creatorcontrib><creatorcontrib>Kholeif, Soha F.</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ismail, Suzan R.</au><au>Kousseff, Boris G.</au><au>Kotb, Samia M.</au><au>Kholeif, Soha F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Duplication 3q(q21 → qter) without limb anomalies</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1991-03-15</date><risdate>1991</risdate><volume>38</volume><issue>4</issue><spage>518</spage><epage>522</epage><pages>518-522</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on a 2.5‐month‐old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>2063889</pmid><doi>10.1002/ajmg.1320380403</doi><tpages>5</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1991-03, Vol.38 (4), p.518-522 |
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| language | eng |
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| subjects | Biological and medical sciences chromosome 3 chromosome 6 Chromosome Banding Chromosomes, Human, Pair 3 - ultrastructure Chromosomes, Human, Pair 6 - ultrastructure Complex syndromes heterochrony Humans Infant limb anomaly Limb Deformities, Congenital Male Medical genetics Medical sciences Multigene Family translocation Translocation, Genetic |
| title | Duplication 3q(q21 → qter) without limb anomalies |
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