Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6:10)(q13:q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.

The HARPS-N Rocky Planet Search. I. HD 219134 b: A transiting rocky planet in a multi-planet system at 6.5 pc from the Sun

We know now from radial velocity surveys and transit space missions thatplanets only a few times more massive than our Earth are frequent aroundsolar-type stars. Fundamental questions about their formation history,physical properties, internal structure, and atmosphere composition are,however, still to be solved. We present here the detection of a systemof four low-mass planets around the bright (V = 5.5) and close-by (6.5pc) star HD 219134. This is the first result of the Rocky Planet Searchprogramme with HARPS-N on the Telescopio Nazionale Galileo in La Palma.The inner planet orbits the star in 3.0935 ± 0.0003 days, on aquasi-circular orbit with a semi-major axis of 0.0382 ± 0.0003AU. Spitzer observations allowed us to detect the transit of the planetin front of the star making HD 219134 b the nearest known transitingplanet to date. From the amplitude of the radial velocity variation(2.25 ± 0.22 ms-1) and observed depth of the transit(359 ± 38 ppm), the planet mass and radius are estimated to be4.36 ± 0.44 M⊕ and 1.606 ± 0.086R⊕, leading to a mean density of 5.76 ± 1.09 gcm-3, suggesting a rocky composition. One additional planetwith minimum-mass of 2.78 ± 0.65 M⊕ moves on aclose-in, quasi-circular orbit with a period of 6.767 ± 0.004days. The third planet in the system has a period of 46.66 ± 0.08days and a minimum-mass of 8.94 ± 1.13 M⊕, at0.233 ± 0.002 AU from the star. Its eccentricity is 0.46 ±0.11. The period of this planet is close to the rotational period of thestar estimated from variations of activity indicators (42.3 ± 0.1days). The planetary origin of the signal is, however, thepreferredsolution as no indication of variation at the corresponding frequency isobserved for activity-sensitive parameters. Finally, a fourth additionallonger-period planet of mass of 71 M⊕ orbits the starin 1842 days, on an eccentric orbit (e = 0.34 ± 0.17) at adistance of 2.56 AU.The photometric time series and radial velocities used in this work areavailable in electronic form at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr(ftp://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/584/A72