Chromosome Studies—Who Needs Them?

Abstract

One in every 200 newborn infants has a chromosome abnormality, and many of these defects do not become symptomatically apparent before puberty. In selected patients, early chromosome analysis (karyotyping) may be invaluable in determining genetic sex, identifying specific anomalies and instituting proper treatment, and counseling carrier parents. Chromosome analysis is as accessible to the physician as the post office, and the information gained can be of much more than academic interest.