Enzymes in Trisomy-18 Syndrome

High alkaline phosphatase activity in isoproterenol stimulated fibroblast cultures from patients with numerically unbalanced chromosomal aberrations

“…A later demonstration that the Ph*-chromosome was not identical with chromosome 21 (Caspersson et al 1970) and that alkaline phosphatase could be significantly increased in patients with the Klinefelter syndrome (Weber et al 1965) or in trisomy 18 (Nadler et al 1966) indicated that the alkaline phosphatase increase in chromosomally unbalanced cells may be a regulatory phenomenon and resulted in premature speculations on the occurrence of operons in man (Teplitz 1966). In consecutive studies with homonuclear fibroblast cultures, the alkaline phosphatase activity was found to be normal in several cases of trisomy 21, 18 and D1 (Cox 1965, Nadler et al 1967 or decreased in one case of trisomy 14 and one case of triploidy, respectively (Kuliev et al 1974(Kuliev et al , 1975.…”

Blood cell enzymes in trisomy E (18) syndrome.

“…The only other report of blood cell enzyme studies in patients with trisomy 18 are those of Nadler, Inouye, and Hsia (1966) who evaluated four enzymes in nine patients and controls. Galactose-1-phosphate uridyl transferase, the only red cell enzyme studied, was found to have normal activity.…”

Clastogenic Effect of TrenimonR on in Vitro Chromosomes of Phenotypically Healthy Subjects with Morphologically Abnormal Caryotype

“…1 hervorgeht, differiert der Prozentsatz der von Aberrationen betroffenen Zellen in der mit Trenimon behandelten Kontrollgruppe zwischen 28 und 58 Prozent. Ein Befund, der mutatis mutandis mit den Beobachtungen von Van Zyl und Wissmiiller (1974) (Rosner et al 1965, Nadler et al 1966, Bartels u. Kruse 1968, Baughen et al 1969. Fur Patienten mit balancierten Translokationen sind derartige Untersuchungen bisher noch nicht durchgefiihrt worden.…”