The cytogenetics laboratory in pediatrics.

This discussion has attempted to define the role of the cytogenetics laboratory in pediatrics and to identify the indications for the major techniques employed with emphasis on their usefulness and limitations. When one considers that 1 of 150 to 175 live births has a chromosomal aberration, the need for accurate diagnosis and reliable genetic counselling is apparent. A chromosome analysis should be closely correlated and coordinated with the clinical evaluation of the patient so that meaningful genetic counselling can be undertaken. The combined efforts of the clinician and the cytogenetics laboratory are necessary to accomplish the objective.