Cromosomas, cromosomopatías y su diagnóstico.

The chromosome is a DNA molecule that maintains a characteristic structure and integrity by means of other molecules. Chromosomal abnormalities are conditions that results from a gain or loss of genetic material, responsible for congenital malformations in less than 2% of the newborns. There are two main groups: numerical and structural aberrations. Clinical evaluation and physical signs are necessary to suspect a chromosomal etiology. For diagnostic confirmation, karyotype is indicated, but other methodologies are available: FISH, MLPA and microarrays, each one of them in special cases. To provide a good quality of care, multidisciplinary approach is needed by studying and treating families with a person affected by a chromosomal abnormality. Consequently every clinical evaluation, diagnosis, health supervision and surveillance, including genetic counseling should be coordinated, and centered in the patient and his family. [ABSTRACT FROM AUTHOR]