{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:DOC-NGERZAQE/a21e892c-88ec-438d-b978-113a9df6d436/HTML","dcterms:extent":"17 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:DOC-NGERZAQE/4134b1bb-3292-4b7a-a30b-422cdbff1c8e/PDF","dcterms:extent":"100 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:DOC-NGERZAQE/12282571-82da-4372-9819-f0ebed4a3a0a/TEXT","dcterms:extent":"16 KB"}],"edm:TimeSpan":{"@rdf:about":"1929-2026","edm:begin":{"@xml:lang":"en","#text":"1929"},"edm:end":{"@xml:lang":"en","#text":"2026"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:DOC-NGERZAQE","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/urn:nbn:si:spr-a30mfzkp"},{"@xml:lang":"sl","#text":"Zdravniški vestnik"}],"dcterms:issued":"2001","dc:creator":["Besednjak-Kocijančič, Lilijana","Paro Panjan, Darja","Stopar, Mirjam","Šavrič-Veličkov, Hilda"],"dc:format":[{"@xml:lang":"sl","#text":"številka:11"},{"@xml:lang":"sl","#text":"letnik:70"},{"@xml:lang":"sl","#text":"str. 675-677"}],"dc:identifier":["ISSN:1318-0347","COBISSID:14275289","URN:URN:NBN:SI:doc-NGERZAQE"],"dc:language":"sl","dc:publisher":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"dc:subject":[{"@xml:lang":"en","#text":"Child, preschool"},{"@xml:lang":"en","#text":"Chromosome deletion"},{"@xml:lang":"en","#text":"Chromosomes, human, pair 5"},{"@xml:lang":"en","#text":"Cri-du-chat syndrome"},{"@xml:lang":"sl","#text":"Delecija kromosoma"},{"@xml:lang":"sl","#text":"Fenotip"},{"@xml:lang":"sl","#text":"Kromosomi človeški 4-5"},{"@xml:lang":"sl","#text":"kromosomske anomalije"},{"@xml:lang":"sl","#text":"Mačji krik, sindrom"},{"@xml:lang":"sl","#text":"Otrok predšolski"},{"@xml:lang":"en","#text":"Phenotype"},{"@xml:lang":"sl","#text":"sindrom cri di chat"}],"dcterms:temporal":{"@rdf:resource":"1929-2026"},"dc:title":{"@xml:lang":"sl","#text":"Sindrom cri du chat - prikaz primera| Cri du chat syndrome - case report|"},"dc:description":[{"@xml:lang":"sl","#text":"Background. The article describes a patient with clinical features of the Cri du chat syndrome. The syndrome is relatively rare chromosomal disorder caused by a deletion of the tip of the short arm of chromosome 5. Cry that sounds like the meowing of a cat, typical facial dysmorphism, primordial growth deficiency and severe psychomotor retardation with microcephaly and hypotonia are the hallmark clinical features. Severity of the phenotype is associated with the extend of the deletion, so FISH is indicated. A level of developmental delay strongly correlates also with early special schooling and supportive home environment. Conclusions. The presented boy lives at home but he daily attends social, verbal and motorical education in a medical institute. In eleven months of schooling a big progress in psychomotor development was achieved"},{"@xml:lang":"sl","#text":"Izhodišča. Prispevek opisuje dveletnega dečka s sindromom cri du chat. Sindromje redka strukturna kromosomopatija, ki je posledica delecije terminalnega dela kratkega kraka petega kromosoma. Jok, ki spominja na mačje mijavkanje; je poleg značilnih displastičnih znakov obraza, primordialne nizkerasti, hude umske in gibalne manjrazvitosti z mikrocefalijo in hipotonijo, značilen za bolezen. Ker je fenotip izraženosti kliničnih znakov odvisen od velikosti delecije, je diagnozo najlažje potrditi s fluorescenčno hibridizacijo in situ (FISX). Zlasti stopnja umske in gibalne manjrazvitosti je v veliki meri odvisna tudi od otrokovega življenjskega okolja in kompleksnezgodnje obravnave. Pri dečku smo ugotovili kariotip 46, xy, del (5) (p13-pter) in našli večino znakov, ki so značilni za ta sindrom. Zaključki. Deček živi v domačem okolju in je vključen v vsakodnevno govorno, socialno in nevromotorično edukacijo v zdravstveni ustanovi. Po enajstih mesecih tovrstne obravnave je, opazen bistven napredek v njegovem umskem in gibalnem razvoju"}],"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:DOC-NGERZAQE","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:DOC-NGERZAQE"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:DOC-NGERZAQE/4134b1bb-3292-4b7a-a30b-422cdbff1c8e/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by-nc/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:DOC-NGERZAQE/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:DOC-NGERZAQE"}}}}