نتایج جستجو برای: triplication
تعداد نتایج: 451 فیلتر نتایج به سال:
Triplication of the ureter is a rare urologic finding that has been well described in the literature. Patients can present with urinary tract infections, incontinence, and calculi. We present the case of a patient with extensive stone burden with right trifid and left bifid collecting systems. Stone management was performed with a multimodal approach using a combination of endoscopic and percut...
Composability and mixed criticality are concepts that promise an ease of development and certification for safety critical systems in all industrial domains. In this paper we define the necessary requirements, highlight issues and classify fault containment, when extending already existing triple modular redundant architectures with these concepts. We evaluate the needed adaptations and extensi...
Fusion of teeth is the union of two or more tooth germs, which are usually separated. Depending upon the stage of odontogenesis, it can be complete or incomplete. The present case describes fusion between the maxillary primary right central and lateral incisor with a supernumerary tooth. Clinical and radiographic examination revealed the presence of fused triple teeth. The fused teeth were extr...
Down syndrome (DS) is the result of triplication of chromosome 21 (trisomy 21) and is the prevailing cause of mental retardation. In addition to the mental deficiencies and physical anomalies noted at birth, triplication of chromosome 21 gene products results in the neuropathological and cognitive changes of Alzheimer’s disease (AD). Mapping of the gene that encodes the precursor protein (APP) ...
We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells. Utilization of fluorescence i...
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