Blood cell enzymes in trisomy E (18) syndrome.

Clinical experience with trisomies 18 and 13.

“…individual chromosomes (Baughan et al, 1969;Hall and Dahlqvist, 1971;Sabater et al, 1971;Cote and Edwards, 1976) and translocations for localising discrete functions to specific areas on an individual chromosome (Noel et al, 1976). In view of this it is interesting to compare the translocation with the primary trisomies in our series.…”

“…The data on hypotelorism is confusing. Smith (1976) states that either hypo-or hypertelorism may occur in trisomy 13 whereas some authors, such as Bergsma (1973) and Taylor (1968) Additonal findings: Trisomy 18-(1) small left ventricle, focal atelectasis lung, microscopical haemangioma of liver, acinar atrophy, fibrosis and ductule proliferation and dilatation of pancreas, cortical nodules of adrenal glands, hypoplasia of cerebellum and pons, neuraxial dysplasia of brain; (3) slight bronchopneumonia, hypertrophy of wall of urinary bladder; (8) abnormal configuration of liver, atrioventricularis communis, persistent left superior vena cava draining into left atrium, tricuspid pulmonary valve, diffusely haemorrhagic lungs, double renal pelvis, and bifid ureter; (9) hypoplasia and atresia of aorta, dilatation, trabeculation, and hyertrophy of urinary bladder, bilobed right lung, cyst of right ovary, stenosis of foramen magnum, focal compression of spinal cord; (12) dextroposition aorta, anomalous insertion papillary muscle of tricuspid valve, bicuspid aortic and pulmonary valves, shortened chordae tendineae, and anomalous insertion of mitral valve, cerebral heterotopia, hypoplasia optic nerves, disorganisation of cortical nuclear layer, mildly abnormal gyrations; (13) pulmonary atresia, hypoplastic right ventricle, anomalous origin and shortening of chordae tendineae of tricuspid leaflets, right subclavian artery originates from descending aorta, partial absence corpus callosum, diffusely abnormal cerebral gyration, abundant extramedullary haematopoiesis in liver, minute areas of pulmonary haemorrhage, focal fibrosis left ventricle, mucocyst formation kidneys; (17) Clinical experience with trisomies 18 and 13 individual chromosomes (Baughan et al, 1969;Hall and Dahlqvist, 1971;Sabater et al, 1971;Cote and Edwards, 1976) and translocations for localising discrete functions to specific areas on an individual chromosome (Noel et al, 1976 Bergsma, 1973; Smith, 1976;(c) Butler et al, 1965;(d) Taylor, 1967; (e) Taylor, 1968; (f) Taylor and Polani, 1964; This paper, percentage mentioned; (h) This paper, percentage total. 1 = or flexion deformity; 2 = or limited abduction or flexion deformity; 3 = after neonatal period;…”

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.…”

Cytogenetics and Fanconi's Anemia: experimental and other studies of a family

“…This possibility is examined by experiments described in a later section. RBC, WBC, and lymphocytes were assayed for hexo kinase activity using the methods described by Valen tine et al [135] and Baughan et al [6], Briefly: A measured number of cells are lysed by freeze-thawing.…”