Biomedical subjects
Publications and source records attributed to C Lausecker.
An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A deficient erythrocyte pyruvate kinase observed in a patient with congenital non-spherocytic anaemia was characterized by the following properties: very low activity in haemolysates, decreased thermal stability, slightly increased urea denaturation, high affinity for PEP, poor FDP activation, normal ATP inhibition, decreased affinity for ADP, normal pH of optimal activity, and presence of an abnormal slow-moving component in this layer polyacrylamide gel electrophoresis. The patient was probably double heterozygous for two different deficient mutants of erythrocyte pyruvate kinase.
Explore the source record for details and available documents.
Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15). The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.