The fragile X syndrome: the patients and their chromosomes
We have reviewed recent publications, mostly from 1980 onwards, concerned with the problem of identifying patients with the fragile X chromosome and mental retardation, considering the two practical sides of the problem, that is, identification by their external appearance and by chromosomal studies...
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| Veröffentlicht in: | Journal of medical genetics 1984-04, Vol.21 (2), p.84-91 |
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| container_end_page | 91 |
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| container_issue | 2 |
| container_start_page | 84 |
| container_title | Journal of medical genetics |
| container_volume | 21 |
| creator | De Arce, M A Kearns, A |
| description | We have reviewed recent publications, mostly from 1980 onwards, concerned with the problem of identifying patients with the fragile X chromosome and mental retardation, considering the two practical sides of the problem, that is, identification by their external appearance and by chromosomal studies. We conclude that this condition covers a large range of physical findings which occur in varying degrees in people with the chromosome marker. We have tried to clarify the existent criteria that have to be considered for an accurate cytogenetic diagnosis. |
| doi_str_mv | 10.1136/jmg.21.2.84 |
| format | Article |
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Kearns, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b533t-68c2f7ccb001f9349c8fde2356d918d68a9666f14ef2b42960e5618bbfb6e7dd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1984</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>Fragile X Syndrome - diagnosis</topic><topic>Fragile X Syndrome - physiopathology</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Phenotype</topic><topic>Puberty</topic><topic>Sex Chromosome Aberrations - physiopathology</topic><topic>Speech Disorders - genetics</topic><topic>Testis - abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>De Arce, M A</creatorcontrib><creatorcontrib>Kearns, A</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 Health & Medical Complete (Alumni)</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>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Arce, M A</au><au>Kearns, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The fragile X syndrome: the patients and their chromosomes</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1984-04-01</date><risdate>1984</risdate><volume>21</volume><issue>2</issue><spage>84</spage><epage>91</epage><pages>84-91</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>We have reviewed recent publications, mostly from 1980 onwards, concerned with the problem of identifying patients with the fragile X chromosome and mental retardation, considering the two practical sides of the problem, that is, identification by their external appearance and by chromosomal studies. We conclude that this condition covers a large range of physical findings which occur in varying degrees in people with the chromosome marker. We have tried to clarify the existent criteria that have to be considered for an accurate cytogenetic diagnosis.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>6371234</pmid><doi>10.1136/jmg.21.2.84</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 1984-04, Vol.21 (2), p.84-91 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Biological and medical sciences Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) Face - abnormalities Female Fragile X Syndrome - diagnosis Fragile X Syndrome - physiopathology Humans Intellectual Disability - genetics Male Medical genetics Medical sciences Phenotype Puberty Sex Chromosome Aberrations - physiopathology Speech Disorders - genetics Testis - abnormalities |
| title | The fragile X syndrome: the patients and their chromosomes |
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