Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Prenatal diagnosis of β thalassaemia by reverse phase HPLC

Reverse phase HPLC of radioactive globin chains has been compared to classical carboxy methyl cellulose chromatography for the prenatal diagnosis of β thalassaemia. The two methods correlated highly (r = 0.97 p < 0.0005) and provided an identical diagnosis for 40 fetal blood samples of fetuses homozygous or heterozygous for β thalassaemia. The HPLC procedure was much faster and required fewer biochemical steps (no globin preparation). It was at least as accurate and more sensitive than the classical chromatography. A single column can be used for 150 analyses and is always ready to be used. Last but not least it is much less expensive than CMC chromatography.     

The effect of metapleural gland secretion on the growth of a mutualistic bacterium on the cuticle of leaf-cutting ants

In Acromyrmex octospinosus leaf-cutting ants the metapleural glands produce an array of antibiotic compounds that serve as a general defence against unwanted microbes on the cuticle. Leaf-cutting ants also grow mutualistic Pseudonocardiaceae bacteria on their cuticle that produce antibiotics controlling a microfungal parasite of their fungus gardens. Interaction between this bacterium and gland secretion therefore seems unavoidable. We document the typical development of bacterial growth on the cuticle of young major workers, show that growth starts a few days after eclosion, and that the maximal cover is reached after 2–3 weeks and gradually declines when workers mature. Experimental closure of the metapleural glands had no effect on the initial exponential growth phase of the bacterium, but significantly reduced the cover during the decline phase. The age-dependent abundance of the bacterium and its partial dependence on metapleural gland secretion support the hypothesis that the abundance of this mutualist is actively regulated.     

Breccias of the Adnet Formation: indicators of a Mid-Liassic tectonic event in the Northern Calcareous Alps (Salzburg/Austria)

Stratigraphy, lithology and depositional structures of Liassic red limestone-breccias of the Adnet Formation, including the 'Adnet Scheck', were studied at several outcrops of the Northern Calcareous Alps (NCA) south-east of Salzburg. A four-fold lithostratigraphic division is proposed for the Adnet Formation of the Osterhorn Mountains: the hemipelagic Schmiedwirt (Sinemurian) and Kehlbach (Carixian) members are separated from the pelagic Saubach Member (Toarcian) by a layer of amalgamated breccias (Scheck Member, probably Domerian to early Toarcian). Several other breccia beds occur locally from the base of the Kehlbach Member up to the lower Saubach Member. Although the sediments overlying the Scheck Member breccias are of coeval age, the ages of the underlying strata are very different. This can be explained by submarine Liassic erosion during a period of resedimentation from the middle Carixian until the early Toarcian. At least 10–15?m of partly lithified sediments were eroded by gravity flows. The entire Kehlbach Member and up to two-thirds of the Schmiedwirt Member were removed at Adnet. The breccias originated from submarine debris flows. Repeated flows over a long period and the depositional setting exclude a triggering by sea-level fluctuations. Most probably they arose from tectonically triggered slumps and slides of superficial sediments. The 'Scheck' was initiated on the steep upper slope of the drowned Triassic Adnet reef and flowed to the north-east.The Pliensbachian to early Toarcian period of tectonic activity indicated by the breccias was the most important during the Liassic in the Osterhorn Mountains and other parts of the NCA. From the large-scale regional distribution of the breccias and in accord with published data, a roughly north-east trending strike-slip fault zone is proposed, crossing the NCA south of the Osterhorn block, with a peaking activity during the Pliensbachian to early Toarcian as the cause of the tectonic movements.     

Latest precambrian (Cadomian) zircon ages, Nd isotopic systematics and P-T evolution of granitoid orthogneisses of the Erzgebirge, Saxony and Czech Republic

Single zircons from two orthogneiss complexes, the Grey Gneiss and Red Gneiss, the lowermost tectonic units in the Erzgebirge, were dated. The grey Freiberg Gneiss is of igneous origin and has a ²⁰⁷Pb/²⁰⁶Pb emplacement age of 550±7 Ma. A quartz monzonite from Lauenstein contains idiomorphic zircons with a mean ²⁰⁷Pb/²⁰⁶Pb age of 555±7 Ma as well as xenocrysts ranging in age between 850 and 1910 Ma. Red gneisses from the central Erzgebirge contain complex zircon populations, including numerous xenocrysts up to 2464 Ma in age. The youngest, idiomorphic, zircons in all samples yielded uniform ²⁰⁷Pb/²⁰⁶Pb ages between 550±9 and 554±10 Ma. Nd isotopic data support the interpretation of crustal anatexis for the origin of both units. _Nd(t) values for the grey gneisses are –7.5 and –6.0 respectively, (mean crustal residence ages of 1.7–1.8 Ga). The red gneisses have a wider range in _Nd(t) values from –7.7 to –2.8 (T _DM ages of 1.4–1.8 Ga). The zircon ages document a distinct late Proterozoic phase of granitoid magmatism, similar in age to granitoids in the Lusatian block farther north-east. However, Palaeozoic deformation as well as medium pressure metamorphism ( 8 kbar/600–650° C) are identical in both gneiss units and distinguish these rocks from the Lusatian granitoids. The grey and red gneisses were overthrust by units with abundant high-pressure relicts and a contrasting P-T evolution. Zircon xenocryst and Nd model ages in the range 1000–1700 Ma are similar to those in granitoid rocks of Lusatia and the West-Sudetes, and document a pre-Cadomian basement in parts of east-central Europe that, chronologically, has similarities with the Sveconorwegian domain in the Baltic Shield.