RESUMO
A new case of monosomy 21 was observed in a newborn male. Characteristic clinical features include: an antimongoloid eye slants, large and low set ears, flat nose bridge, hypoplastic nipples, cardiac anomalies, muscular hypotonia, retarded psychomotor development. The karyotypes of the parents were normal.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 21 , Monossomia , Bandeamento Cromossômico , Humanos , Recém-Nascido , MasculinoRESUMO
The presence in the serum of alpha-1-fetoprotein (AFP) was studied by the following immunological methods: immunoprecipitation electrophoresis after Pesendorfer et al., modified micro Ouchterlony technique as described by Prince, and for quantitative determination of this fraction commercial Partigen plates with sensitivity above 1 mg/100 ml. were used (Behringwerke A.G.). Anti AFP serum produced by the same company was used. In our experiance these three methods were equally sensitive In the newborn (41) with hyperbilirubinemia (cytomegalic inclusion disease, toxoplasmosis, ABO and Rh incompatibility) despite persisting abnormal laboratory tests indicating liver damage AFP disappeared from circulation by the end of the first month. Fetoprotein has been demonstrated in the serum by the end of the third month in nine babies in whom malformation of the biliary ducts was confirmed intraoperatively (7,14). In adults AFP was observed in the serum of only those patients in whom presence of primary hepatocellular liver cancer was proved pathohistologically Out of 15 verified cases of primary liver cancer AFP was positive in 43.7%.