Fenotipos neurológicos en pacientes estudiados con citogenética en el Hospital de Puerto Montt / Neurological phenotypes in cytogenic study from Puerto Montt Hospital patients
Rev. chil. psiquiatr. neurol. infanc. adolesc. (Impr.)
;
26(3): 8-16, dic. 2015.
Article
in Spanish
| LILACS
| ID: biblio-1381691
RESUMEN
El examen citogenético, es una herramienta importante para confirmar el diagnóstico, manejo y consejo genético. El objetivo es analizar las características del fenotipo neuroconductual, protocolizar y orientar en la eficaz solicitud del estudio citogenético. Se revisaron las fichas clínicas de los pacientes controlados del policlínico de Neuropediatría del Hospital de Puerto Montt, con cariograma anormal entre los años 2007 y 2012. De 248 pacientes, 12% se identificó una alteración; 58% aberraciones estructurales, 20% aneuploidías, y 20% alteraciones genético - moleculares. Los elementos clínicos que se encontraron fueron microcefalia 48%, retraso mental 67%, historia familiar 67%, hipotonía 70%, convulsiones 41%, alteraciones del SNC 37%.
ABSTRACT
Cytogenetic examination is an important tool for confirming diagnosis, case management and genetic counseling. The aim is to analyze the characteristics of neurobehavioral phenotypes, formalize and guide the effective application of cytogenetics. The medical records of patients with abnormal karyotype seen between 2007 and 2012 at the Hospital of Puerto Montt's neuropaediatric outpatient clinic were reviewed. Of 248 patients, in 12% an alteration was identified; 58% structural aberrations, 20% aneuploidy, and 20% genetic-molecular alterations. The clinical elements found were 48% microcephaly, 67% mental retardation, 67% family history, 70% hypotonia, 41% seizures, 37% CNS disorders.
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Subject(s)
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Cytogenetic Analysis
/
Nervous System Diseases
Type of study:
Diagnostic study
/
Practice guideline
/
Prognostic study
Limits:
Child
/
Humans
Language:
Spanish
Journal:
Rev. chil. psiquiatr. neurol. infanc. adolesc. (Impr.)
Journal subject:
Medicina Cl¡nica
/
Neurologia
/
Patologia
/
Pediatria
/
Psiquiatria
Year:
2015
Type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Clínica Los Andes/CL
/
Hospital Puerto Montt/CL
/
Hospital San Borja Arriarán/CL
/
Universidad de Chile/CL
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