Chromosomal Aberrations

Chromosomal aberrations may be numerical, due to the presence of an extra or missing chromosome, or structural, where there is a loss of a fragment, a supernumerary portion, or a reciprocal exchange of chromosome portions. There is often skeletal involvement in these syndromes. Whenever an anatomical abnormality of the foetus is present, it is necessary to request genetic testing because sometimes that single finding can allow a diagnosis characterized by severe functional handicaps. In addition, if we observe a growth retardation localized to certain districts or generalized, we must be aware that the prognosis is all the more serious the earlier this finding is made.