RESUMO
We report results from the first search for ν_{µ}âν_{e} transitions by the NOvA experiment. In an exposure equivalent to 2.74×10^{20} protons on target in the upgraded NuMI beam at Fermilab, we observe 6 events in the Far Detector, compared to a background expectation of 0.99±0.11(syst) events based on the Near Detector measurement. A secondary analysis observes 11 events with a background of 1.07±0.14(syst). The 3.3σ excess of events observed in the primary analysis disfavors 0.1π<δ_{CP}<0.5π in the inverted mass hierarchy at the 90% C.L.
RESUMO
This Letter reports results from the MINOS experiment based on its initial exposure to neutrinos from the Fermilab NuMI beam. The rates and energy spectra of charged current nu(mu) interactions are compared in two detectors located along the beam axis at distances of 1 and 735 km. With 1.27 x 10(20) 120 GeV protons incident on the NuMI target, 215 events with energies below 30 GeV are observed at the Far Detector, compared to an expectation of 336+/-14 events. The data are consistent with nu(mu) disappearance via oscillations with |Delta(m)2/32|=2.74 +0.44/-0.26 x10(-3)eV(2) and sin(2)(2theta(23))>0.87 (68% C.L.).
RESUMO
Wolf syndrome has been recognized since the mid-sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter----8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from a de novo balanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of 4p.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 4 , Bandeamento Cromossômico , Cromossomos Humanos Par 8 , Humanos , Deficiência Intelectual/genética , Masculino , Linhagem , Síndrome , Translocação GenéticaRESUMO
Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 leads to 6qter) produces a highly characteristic syndrome.
