Cytogenetic abnormalities in orthopedic patients

Patients with orthopedic problems may also have chromosomal abnormalities. Individuals who present with subtle clinical findings suggestive of a known syndrome resulting from a chromosomal abnormality, such as Klinefelter syndrome, Turner syndrome, or any of the known trisomiers, should be investigated further in order to confirm the diagnosis. In addition, those patients who have multiple congenital abnormalities in several systems should also have chromosome analysis. This should be done not only to gain new information in regard to chromosome abnormalities, but also to establish a diagnosis for the individual and thus provide proper genetic counseling for the family. If the clinical picture strongly suggests a chromosomal abnormality, and routine karyotyping does not demonstrate one, it is imperative that one or more banding techniques be utilized before a chromosomal abnormality can be ruled out.