21) is one of the most common genetic causes of moderate to severe mental retardation. Virtually all individuals with Down syndrome are hypotonic and have minor dysmorphic features, which can include up-slanting palpebral fissures, epicanthal folds, flat nasal bridge, Brushfield spots of the iris, shortened fifth finger, and transverse palmar crease. Congenital heart disease is present in 40%, and 5% have gastrointestinal anomalies such as duodenal atresia or Hirschsprung disease. The incidence of childhood leukemia is increased up to 20 times over that of the general population. Adults with Down syndrome experience neuronal degeneration identical to that present in Alzheimer's disease. Down syndrome individuals without congenital heart disease can live beyond 60 years of age.DS2.3 ETIOLOGY. Down syndrome is caused by the presence of an extra copy of chromosome 21, either as a free chromosome, a Robertsonian translocation, or a reciprocal translocation involving chromosome 21. Approximately 95% of cases result from sporadic nondisjunction during parental meiosis. The nondisjunction is maternal in 95% of cases, and 77% of the maternal nondisjunction occurs during meiosis I. The risk of having a child with Down syndrome increases with advancing maternal age. Down syndrome can be inherited when one parent carries a translocation involving chromosome 21. If a parent carries a Robertsonian translocation, the risk to the offspring is dependent on the sex of the carrier parent.
DS2.4 LABORATORY DIRECTOR.Although the prenatal screening laboratory utilizes clinical chemistry methods such as enzyme immunoassays, its function differs, because the results require a unique kind of interpretation. This interpretation puts the results of the test into the appropriate context of a priori risks as determined by maternal age, gestational age, and family history. The laboratory director is often called upon to provide consultation regarding these risks and options for further action. To address these unique requirements, the laboratory director should meet the standards set out in Section B3 of the ACMG guidelines. When prenatal screening for Down syndrome is performed in a clinical chemistry laboratory in which the director does not meet these standards, the laboratory should have a demonstrated relationship with an individual Women and Infants Hospital, Providence, Rhode Island. From the
G.E. Palomaki's present address is