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Las anomalías cromosómicas están presentes en un 0,7–0,8 % de los recién nacidos vivos. La repercusión fenotípica de las cromosomopatías es muy diversa. Pueden estar presentes también en individuos fenotípicamente normales, pero con riesgo elevado de abortos de repetición y de descendencia afectada por defectos congénitos y/o retraso mental. Es importante conocer la repercusión de las diferentes anomalías cromosómicas con el fin de proporcionar un asesoramiento correcto a los pacientes.
Palabras clave:
Cariotipo
Cromosoma
Citogenética
Fenotipo
The incidence of chromosome anomalies in newborn infants is 0.7–0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.
Key words:
Karyotype
Chromosome
Cytogenetics
Phenotype
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