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    Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report
    (Sivas Cumhuriyet University, 2020) Sılan, Fatma; Albuz, Burcu; Bourouba, Romyla; Öztürk, Menekşe; Yıldız, Onur; Özdemir, Öztürk
    Objective: Mastocytosis is a heterogeneous clinical phenotype spectrum characterized by the accumulation of mast cells in various organs. Cutaneous mastocytosis is the skin bounded form of this spectrum. Diffuse Cutaneous Mastocytosis (DCM) is a rare type of cutaneous mastocytosis that accounts for only 1 to 5% of all cases. The aim of this study is to report the molecular characterization of a Turkish patient with DCM with a large duplication on the long arm of chromosome 14, including the BCL11B (CTIP2) gene.Case: A 32-months-old girl was referred to our department because of DCM and stuttering. In our patient who was born at 38 weeks of gestation after an uneventful pregnancy, in the neonatal period; recurrent episodes of diarrhea and atopic dermatitis began and DCM was diagnosed due to diffuse bullous lesions on the skin at the age of 4 months. Although growth and motor development were normal, there was language delay. Routine karyotype analysis of the case was normal (46,XX). In the microarray-CGH analysis, de novo 7.7 megabase (Mb) duplication containing 15 morbid OMIM genes including BCL11B gene at 14q32.2-q32.33 locus was detected.Conclusions: BCL11B, which is highly expressed during the development of T lymphocytes, is a transcriptional regulatory protein. It has been shown immunohistochemically that BCL11B is also expressed in the normal human epidermis. We suggest that the BCL11B gene may be a potential candidate gene for diffuse cutaneous mastocytosis. Other cases with such clinical signs should be examined for mutations of the BCL11B gene.
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    The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
    (Egyptian Society of Human Genetics, 2018) Sılan, Fatma; Bourouba, Romyla; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Özdemir, Öztürk
    Background: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this study was to report cytogenetics and molecular characterization of a mental and motor retarded boy with short arm of chromosome 8 rearrangements [invdupdel(8p)] in this current case report. Subjects and methods: We report an 11-year-old boy with scoliosis, intellectual disability, mental-motor retardation and characteristic facial features. Agenesis of corpus callosum was detected with brain Magnetic Resonance Imaging (MRI) analysis. Derivative chromosome 8 structure was identified after conventional cytogenetics – karyotype analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA) and Microarray-based Comparative Genomic Hybridization (aCGH) techniques. Genotype-phenotype correlation in the current proband case will be discussed. Results: Case was diagnosed as 46, XY, der (8), del (8) (p23.1) invdup (8) (p11.1-p23.1) by using advanced comparable techniques. Subtelomeric MLPA analysis showed deletion of FBXO25 gene which is located at 8p23.3 locus and FISH with subtelomeric probes for 8p shows also only deleted region. The microarray-CGH profilling showed 7,9 mb deletion for 8p23.1 and 31 mb duplication for 8p11.1 locuses. Conclusion: Results from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. © 2018