11p13 Deletion Syndrome: First Case in Morocco Detected by FISH

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11p13 Deletion Syndrome: First Case in Morocco Detected by FISH

Abdelhafid Natiq1,3*, Saadia Amasdl1, Thomas Liehr4 , Katharina Kreskowski4, Britta Meyer5, Ilhame Ratbi2, Saaid Amzazi3 and Abdelaziz Sefiani1,2 1Département de Génétique Médicale, Institut National d’Hygiène, Morocco 2Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Morocco 3Faculté des Sciences de Rabat, Université Mohamed V Agdal, Morocco 4Jena Univer...

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Polyploidy in chronic lymphocytic leukemia with p53 deletion detected by fish: a case report

We report a case of chronic lymphocytic leukemia with a characteristic cytogenetics finding detected by fluorescent in situ hybridization. This case has deletion in p53 gene in 50% of interphase nuclei studied in the peripheral blood and polyploidy in 30% of cells. To our knowledge polyploidy is not commonly reported with chronic lymphocytic leukemia patients.

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The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestati...

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High incidence of chromosome 13 deletion in multiple myeloma detected by multiprobe interphase FISH.

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ژورنال

عنوان ژورنال: Journal of Pediatrics & Neonatal Care

سال: 2014

ISSN: 2373-4426

DOI: 10.15406/jpnc.2014.01.00048