Mosaicism of isochromosome 18p.

The first case of isochromosome 18p as a mosaic in a male fetus diagnosed by amniocentesis is reported. After termination of the pregnancy at 21 weeks gestation biopsies from different fetal organs as well as from the placenta were taken and set up for long term cell cultures. The distribution of the normal and abnormal cell-line in fetal organs was unequal. Unexpectedly the metaphases in the placenta and the lymphocyte culture all showed a normal karyotype. The tetrasomy 18p is associated with a uniform phenotype, even in fetal life, characterized by a small head with protuberant occiput, low-set ears with posterior rotation, epicanthic fold, sharp pinched nose, convex and poorly formed philtrum, high-arched palate, retrognathia, flexion contractures of fingers, short and broad hallux, hypoplastic penis, angulation of clavicles and mild scoliosis. The propositus showed no growth retardation.     

Human Settlements on the Northern Shores of Lake Aral and Water Level Changes

The shore of Lake Aral in Kazakhstan is a perfect area for studying the human adaptation strategy to past climate changes. New archaeological material, gathered along the northern shores during the expedition of the INTAS project CLIMAN, is briefly presented. Changes in settlement activity during the Atlantic and Subboreal are related to lake level changes of the Aral Sea. A previ-ously proposed lake level maximum needs to be revised. In particular the lake level stand at 72/73 m, with an assumed age of 5000 BP is definitely refused. Based on the presented data the maximum lake level most probably never reached beyond 57/58 mean average sea level (masl). Furthermore the regression during the 15^th–16^th centuries has been underestimated. It may have been lower than the present day level. Thus the present desiccation of the Aral Sea is historically not unique, as a similar regression, probably induced by man as well, has occurred at least once during history. A readjustment of the water level is, therefore, possible at any time.     

Prenatal diagnosis of aortic atresia by colour doppler flow mapping

A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascending aorta, (b) reverse flow of blood from the ductus arteriosus into the severely hypoplastic ascending aorta in the late systole, (c) pansystolic mitral valve regurgitation, and (d) absent flow across the foramen ovale as a result of premature closure of the foramen ovale.