Separation of chromatids of all mitotic chromosomes, here called total premature chromatid separation (total PCS), was observed in 67 to 87.5% of repeated cultures of peripheral blood lymphocytes from two unrelated infants. Also noted was a variety of mosaic aneuploidies, especially trisomies, double trisomies, and monosomies, to be called mosaic variegated aneuploidy. The infants both showed severe pre- and postnatal growth retardation, profound developmental retardation, uncontrollable seizures, severe microcephaly, hypoplasia of the brain, Dandy-Walker anomaly, abnormal facial appearance, and bilateral cataract. Patient 1, a girl, in addition had a cleft palate, multiple renal cysts, and Wilms tumor of the left kidney. Whereas patient 2, a boy, had ambiguous external genitalia. They both died within 2 years of age. In the two families of the infants, their parents and three other members showed 2.5 to 47% lymphocytes with total PCS but without mosaic variegated aneuploidy or phenotypic abnormalities. Another 10 relatives studied showed 0 to 1% cells with total PCS and so were judged negative for the total PCS trait. It was deduced that the total PCS trait in the two families was transmitted in an autosomal-dominant fashion, and the two affected infants were homozygous for the trait.
A new method for the determination of pH in reversed micellar systems was proposed. The degree of dissociation (α) of Phenol Red in the systems was observed spectrophotometrically. The value of pH can be obtained by use of the Henderson-Hasselbach equation with the aid of pKa of Phenol Red measured by means of 31P-NMR in the systems containing phosphate buffer solutions. The method was applied to systems consisting of sodium octanoate, 1-hexanol, and water and some buffer solutions other than phosphate buffer solutions, and found to be effective within a wide pH range. Analysis of the fluorescence spectra of 8-anilino-1-naphthalene-sulfonic acid indicates that Phenol Red molecules are present at the interface between the water core and the 1-hexanol phase in reversed micelles. The hydrolytic reaction of p-nitrophenyl acetate was also studied kinetically and found to change slightly with pH.
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