Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)
Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial...
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| Veröffentlicht in: | American journal of human genetics 1995-12, Vol.57 (6), p.1364-1370 |
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| container_title | American journal of human genetics |
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| creator | CLARKE, R. A SINGH, S MCKENZIE, H KEARSLEY, J. H YIP, M.-Y |
| description | Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has been found segregating with congenital vertebral fusion. The four-generation KF2-01 family present with dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment. |
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A ; SINGH, S ; MCKENZIE, H ; KEARSLEY, J. H ; YIP, M.-Y</creator><creatorcontrib>CLARKE, R. A ; SINGH, S ; MCKENZIE, H ; KEARSLEY, J. H ; YIP, M.-Y</creatorcontrib><description>Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has been found segregating with congenital vertebral fusion. The four-generation KF2-01 family present with dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8533765</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Biological and medical sciences ; Chromosome Inversion ; Chromosome Mapping ; Chromosomes, Human, Pair 8 - genetics ; Diseases of the osteoarticular system ; Female ; Humans ; Karyotyping ; Klippel-Feil Syndrome - genetics ; Male ; Malformations and congenital and or hereditary diseases involving bones. 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A</creatorcontrib><creatorcontrib>SINGH, S</creatorcontrib><creatorcontrib>MCKENZIE, H</creatorcontrib><creatorcontrib>KEARSLEY, J. H</creatorcontrib><creatorcontrib>YIP, M.-Y</creatorcontrib><title>Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has been found segregating with congenital vertebral fusion. The four-generation KF2-01 family present with dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment.</description><subject>Biological and medical sciences</subject><subject>Chromosome Inversion</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Klippel-Feil Syndrome - genetics</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Pedigree</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLw0AUhQdRan38BCELkXaRMo_MayNIsSotuNF1uJnM6Mjk0Uxb6L83aii6cnXv5Tsczj1HaEw4k6kQmB-jMcaYpppqeYrOYvzAmBCF2QiNFGdMCj5GywVUPngIyTL4trUhXVgfkrivy66pbAJ1mbTQgbH1pvMm8fXOdtE39dc2UdPJmtIZXVM2Y9MLdOIgRHs5zHP0urh_mT-mq-eHp_ndKm0ZJZsUjARaCGt11t8Gl5AJkznmXMalVrog0mEupRGCOuCKaU6UlrhkjhcagJ2j2x_fdltUtvyOBiFvO19Bt88b8PlfUvv3_K3Z5f3zJKO0N7gZDLpmvbVxk1c-GhsC1LbZxlz21VClxb9CIjFXfcm98Op3pEOWoeeeXw8cooHgOqiNjwcZ1URIydgnM1-F-g</recordid><startdate>19951201</startdate><enddate>19951201</enddate><creator>CLARKE, R. A</creator><creator>SINGH, S</creator><creator>MCKENZIE, H</creator><creator>KEARSLEY, J. 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H ; YIP, M.-Y</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p321t-ac7a2b6ee94321c0da46c4f3ff457989b17f0577c662fa5839518970d3f5b9aa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Inversion</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Klippel-Feil Syndrome - genetics</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CLARKE, R. A</creatorcontrib><creatorcontrib>SINGH, S</creatorcontrib><creatorcontrib>MCKENZIE, H</creatorcontrib><creatorcontrib>KEARSLEY, J. H</creatorcontrib><creatorcontrib>YIP, M.-Y</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>CLARKE, R. A</au><au>SINGH, S</au><au>MCKENZIE, H</au><au>KEARSLEY, J. H</au><au>YIP, M.-Y</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1995-12-01</date><risdate>1995</risdate><volume>57</volume><issue>6</issue><spage>1364</spage><epage>1370</epage><pages>1364-1370</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has been found segregating with congenital vertebral fusion. The four-generation KF2-01 family present with dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8533765</pmid><tpages>7</tpages></addata></record> |
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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Biological and medical sciences Chromosome Inversion Chromosome Mapping Chromosomes, Human, Pair 8 - genetics Diseases of the osteoarticular system Female Humans Karyotyping Klippel-Feil Syndrome - genetics Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Pedigree |
| title | Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3) |
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