Down Syndrome Resulting from a Rare non-Robertsonian Translocation t(11;21)(p13;q22)

Introduction: Down syndrome (DS) is a common genetic disorder, occurring in approximately 1 in 700 births. It results from an extra copy (triplication) of the whole or part of the long arm of chromosome 21 caused by different cytogenetic alterations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements. Non-Robertsonian chromosome translocations are very rare events with few cases reported. Case Report: We identified the non-Robertsonian translocation t(11;21)(p13;q22) and two chromosomes 21 in a female child referred with a clinical diagnosis of trisomy 21.  The infant developed the transient myeloproliferative disorder at 17 months. Cytogenetic analysis was performed in lymphocytes and bone marrow metaphases according to standard procedure - G banding and fluorescence in situ hybridization.  The karyotype study of the parents revealed that her phenotypically normal mother carries the same reciprocal translocation. Conclusion: This is the second report of the translocation t(11;21)(p13;q22),  the first one resulting in DS.  This description expands knowledge about cytogenetic variability in the etiology of DS. Future studies are needed to investigate the long-term clinical effects of the trisomy 21 associated with t(11;21)(p13;q22)

QUBIC Experiment Toward the First Light

International audienceThe Q & U Bolometric Interferometer for Cosmology (QUBIC) is a cosmology experiment that aims to measure the B-mode polarization of the cosmic microwave background (CMB). Measurements of the primordial B-mode pattern of the CMB polarization are in fact among the most exciting goals in cosmology as it would allow testing of the inflationary paradigm. Many experiments are attempting to measure the B-modes, from the ground and the stratosphere, using imaging Stokes polarimeters. The QUBIC collaboration developed an innovative concept to measure CMB polarization using bolometric interferometry. This approach mixes the high sensitivity of bolometric detectors with the accurate control of systematics due to the interferometric layout of the instrument. We present the calibration results for the Technological Demonstrator, before its commissioning in the Argentinian observing site and preparation for first light

Optical Characterization of OMT-Coupled TES Bolometers for LiteBIRD

International audienceFeedhorn- and orthomode transducer- (OMT) coupled transition edge sensor (TES) bolometers have been designed and micro-fabricated to meet the optical specifications of the LiteBIRD high frequency telescope (HFT) focal plane. We discuss the design and optical characterization of two LiteBIRD HFT detector types: dual-polarization, dual-frequency-band pixels with 195/280 GHz and 235/337 GHz band centers. Results show well-matched passbands between orthogonal polarization channels and frequency centers within 3% of the design values. The optical efficiency of each frequency channel is conservatively reported to be within the range 0.64-0.72, determined from the response to a cryogenic, temperature-controlled thermal source. These values are in good agreement with expectations and either exceed or are within 10% of the values used in the LiteBIRD sensitivity forecast. Lastly, we report a measurement of loss in Nb/SiN x/Nb microstrip at 100 mK and over the frequency range 200-350 GHz, which is comparable to values previously reported in the literature