Resumo

AGUINAGA, Monica et al. Análisis y resultados clinicocitogenéticos de fetos y recién nacidos con alteraciones cromosómicas durante un año en el Instituto Nacional de Perinatología. Perinatol. Reprod. Hum. [online]. 2005, vol.19, n.2, pp.94-105. ISSN 2524-1710.

Introduction: Chromosomal anomalies are a frequent cause of human disease. Objective: Describe the numerical and structural chromosomal anomalies detected by cytogenetic studies done prenatally and in newborns found in the Instituto Nacional de Perinatología during the period between January and December 2003. Methods: Descriptive study of the patients with congenital defects seen by the Genetics Department who presented chromosomal anomalies. Results: During the year 2003, the 3.46% (189/5795) of the babies born at the INPer had structural anomalies. Twenty patients had a chromosomal anomaly of which 21 (77.7%) had a chromosomal numeric alteration and six (22.2%) a chromosomal structural anomaly which represented 0.46% of the newborns. In six cases the diagnosis was done prenatally and confirmed at birth. Conclusions: Most of the chromosomal anomalies present themselves with multiple congenital anomalies and retarded growth and development. It is very important to implement this type of studies in patients with congenital anomalies, complete the familiar study and provide an accurate genetic counseling to the parents.

Palavras-chave : Cromosoma; cariotipo; trísomía; monosomía.