Abstract
Background: The chromosomic alterations prevalence is about 1% at birth; therefore, cytogenetics is an important tool for the Neonatology and Pediatrics Units at all health centers.
Objective: Evaluate cytogenetics studies performed at the Pathology Unit in the Hospital of Antofagasta between 1997 and 2006.
Method: Evaluation of 534 chromosome analysis results in peripherial blood lymphocytes obtained from patients belonging to the Neonatology and Pediatrics Units from Hospital Regional of Antofagasta. The sample included newborn, infants, pre-scholars and scholars with Down Syndrome, congenital malformations, dysmorphic syndromes and other genetic alterations. An optical microscope and international nomenclature (ISCN) were used; chromosome analysis included 35 or more mitosis per case.
Results: 22,50% (n = 120) of exams showed chromosome alterations: 76,67% of these cases were numerical alterations and 23,33% corresponded to structural alterations.
Conclusions: In the studied population, the cytogenetics study is an important tool together with clinical aspects, especially regarding genetic counsil.
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