نتایج جستجو برای: triplication
تعداد نتایج: 451 فیلتر نتایج به سال:
preaxial polydactyly is the most common duplication pattern in white and asian populations (1). it is a congenital anomaly with a wide range of manifestations .current classification do not have the capacity to classify all different types of radial polydactyly. we describe here a very rare and unusual case of bilateral preaxial polydactyly (triplication) in a woman and report the operations re...
Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo by conventional cytogenetics and fluorescent in situ hybri...
A lower mantle S-wave triplication is detected using shortand long-period SH seismograms in the distance range 70 ø to 95 ø . Modeling of the observations with synthetic seismograms indicates that the tripliGation is produced by a 2.75 • 0.25% shear velocity increase about 280 km above the core-mantle boundary. The SH data from intermediate and deep focus events for three distinct source ragion...
A female infant who died at 2 years of age with growth and psychomotor retardation, wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures, recurrent infections, and severe pulmonary hypertension was found to have a de novo 7p+ chromosome. The G banding pattern was suggestive of a triplication of 7p21.3 and 7p22; results of fluorescenc...
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