ABSTRACT Recently, molecular genetic techniques have been rapidly incorporated into routine clinical as well as laboratory medicine, and genetic diseases including inborn errors of metabolism have come to be diagnostically viewed as changes in DNA. Molecular genetic techniques have the advantage that rapid and accurate analysis can be made with a small amount of samples in comparison with analysis at the protein level by conventional biochemical techniques. They are, therefore, clinically used today not only for the diagnosis of various genetic diseases but also for the detection of infection, including viral infections, in the outpatient clinic. They have also been applied to fetal diagnosis, and are bringing about major changes in prenatal medicine.
ABSTRACT A two-year-old girl who presented with symbrachydactyly of the left foot associated with the absence of the right pectoralis major muscle was treated with phalangization of the toes. No other abnormalities were noted. The operative procedure was performed in two stages, separated by eight months. Excellent cosmetic and functional results were 'obtained. The combination of symbrachydactyly of the foot and congenital absence of the contralateral pectoralis major muscle is extremely rare.
ABSTRACT The maxillary regions of day-12.5 and day-13.5 ICR mouse fetuses were cultivated in a chemically-defined serumless medium by a suspension culture technique to examine the toxic effects of 5-fluorouracil (5-FU) and hydroxyurea (HU) on cultured palates and to compare the sensitivity of fetal mouse palates at different stages of develop- ment. The palates of day-12.5 and day-13.5 fetal mice were explanted and exposed in vitro for 72 hr to 0.1-50 pg 5-FWml or to 5-76 pg HU/ml. 5-FU inhibited the growth and fusion of day-12.5 palatal shelves in vitro dependently on its concentrations. Day-13.5 palates were significantly less sensitive to 5-FU than day-12.5 palates, and the minimal toxic concentrations (MTCs) of 5-Fu were 0.1 and 10 pg/ml for day-12.5 and day-13.5 fetal palates, respectively. HU inhibited the in vitro growth and fusion of day-12.5 fetal palatal shelves in a concentration dependent manner, but only slightly suppressed the growth of day-13.5 fetal palates. The MTCs of HU were 19 and 76 pglml for day-12.5 and day-1 3.5 fetal palates, respectively. Therefore, day-12.5 fetal mouse palates (at stage -1 or earlier stages of palatogenesis) seemed significantly more susceptible to these terato- genic chemicals than day-13.5 fetal palates (at stages 2-3 of palatogenesis). The palates of day-12.5 ICR fetal mice may be more suitable than day-13.5 palates for in vitro terato- gen screening and for the study of mechanisms of normal and abnormal palatogenesis.