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New Discovery of a Rare Robertsonian Translocation (15;22) - A Case Report from India

Published on: 1st May, 2024

The rob(15;22) is one of the rarest translocations which accounts for only 0.6% of the entire Robertsonian translocations reported in humans. A case of rob(15;22) in association with trisomy 21 still has not been reported. In the present study, a case of a 3-year 6-month-old male child with rob(15;22) with trisomy 21 is focused. The phenotype comprises generalized hypotonia, delayed developmental milestones, simian crease, dysmorphic facies, etc. Chromosome analysis with peripheral blood was executed and the karyotype was interpreted as 46,XY,der(15;22)(q10;q10)+21. To analyse whether the chromosomal translocation was de-novo or inherited, the chromosome analysis with the peripheral blood of his parents was performed. The karyotype of the father was interpreted as 46,XY, and of the mother was 45,XX,der(15;22). It was concluded that the rob(15;22) was inherited from his mother, although trisomy 21 was a de novo incidence. Hence, this case study can be proven useful in the understanding of rob(15;22) in solo and rob(15;22) in association with trisomy 21.
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Bladder Benign Inverted Papilloma in Young Men: A Case Report

Published on: 13th May, 2024

An inverted papilloma of the urinary tract is a rare benign lesion. A 35-year-old male presented gross hematuria. Cystoscopy showed one, papillary tumor at the bladder trigone. Transurethral resection was done, and histological examination has concluded in the diagnosis of inverted papilloma. Following resection, the patient was asymptomatic with no hematuria and no recurrence after a five-year cystoscopy control. We report a case of bladder Inverted papilloma and we aim to remind the clinical, histological, and therapeutic features of this rare tumor.
Cite this ArticleCrossMarkPublonsHarvard Library HOLLISGrowKudosResearchGateBase SearchOAI PMHAcademic MicrosoftScilitSemantic ScholarUniversite de ParisUW LibrariesSJSU King LibrarySJSU King LibraryNUS LibraryMcGillDET KGL BIBLiOTEKJCU DiscoveryUniversidad De LimaWorldCatVU on WorldCat
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