Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

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dc.contributor.authorCortes, F.
dc.contributor.authorAlliende, A.
dc.contributor.authorBarrios, A.
dc.contributor.authorCurotto, B.
dc.contributor.authorSanta Maria, L.
dc.contributor.authorBarraza, X.
dc.contributor.authorTroncoso, L.
dc.contributor.authorMellado, C.
dc.contributor.authorPardo, R.
dc.date.accessioned2024-01-10T13:46:52Z
dc.date.available2024-01-10T13:46:52Z
dc.date.issued2005
dc.description.abstractBackground: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperpbagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause kof genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1016 to mutations in the imprinting center. Aim: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and methods.. Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. Results: Twenty three (51.1%) patients had a delection, 13 (28.9%)patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n= 11) and 11.5 points for patients older lban 3 years (n=34);for patients aged 12 months or less, the clinical Score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. Conclusions: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS.
dc.fechaingreso.objetodigital2025-11-28
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:15768148
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79209
dc.identifier.wosidWOS:000227658400005
dc.information.autorucMedicina;Mellado C;S/I;1002671
dc.issue.numero1
dc.language.isoes
dc.nota.accesocontenido completo
dc.pagina.final41
dc.pagina.inicio33
dc.publisherSOC MEDICA SANTIAGO
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsacceso abierto
dc.subjectabnormalities, multiple
dc.subjectmental retardation
dc.subjectPrader-Willi syndrome
dc.subjectUNIPARENTAL DISOMY
dc.subjectDIAGNOSTIC-CRITERIA
dc.subjectANGELMAN-SYNDROMES
dc.subject15Q11-Q13
dc.subjectDELETION
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleCaracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
dc.title.alternativeClinical, genetic and molecular features in 45 patients with Prader-Willi syndrome
dc.typeartículo
dc.volumen133
sipa.codpersvinculados1002671
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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