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Öğe ARRAY-CGH AND CLINICAL FINDINGS IN A PATIENT WITH A SMALL SUPERNUMERARY r(8) MOSAICISM(Medecine Et Hygiene, 2014) Eyupoglu, F. Celep; Sunnetci, D.; Cine, N.; Savli, H.; Okten, A.; Acikgoz, E. Gul; Sonmez, F. M.Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism: Small supernumerary ring chromosomes (sSRC) represent a subset of small supernumerary marker chromosomes (sSMC) where r(8) is relatively common. The phenotype sSRC(8) ranges from almost normal to variable degrees of abnormalities in mosaic or non-mosaic conditions. We present a new patient of de novo mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p11.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47,XY,+r(?) [47]/46,XY [36] and we performed array comparative genomic hybridization (array-CGH) in order to precisely define the extension about chromosomal origin of the duplicated region in a patient. Array-CGH analysis confirmed that the sSRC derived a 43.921 Mb genomic gain of chromosome 8 (p11.21-q21.13). Common clinical features of the patient included multiple congenital anomalies, developmental delay, thoracolumbar scoliosis, mild pulmonary stenosis, laryngomalacia, hypospadias and atypical facial appearance. With this study a patient involving mosaic trisomy 8p11.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q.Öğe HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME ASSOCIATED WITH HYDROCEPHALUS(Medecine Et Hygiene, 2014) Erpolat, S.; Tekerekoglu, B.; Sonmez, F. M.Hemihypoplasia-multiple lipomatosis syndrome associated with hydrocephalus: Hemihyperplasia-multiple lipomatosis syndrome (HMLS) is characterized by subcutaneous lipomatosis and an asymmetric overgrowth (hemihyperplasia). We report an extremely rare case of HMLS associated with hydrocephalus, emphasizing the clinical features and differential diagnosis.Öğe MICRODELETION OF CHROMOSOME 1Q21.3 IN FRATERNAL TWINS WITH MENTAL RETARDATION, MICROCEPHALY, EPILEPSY AND DYSMORPHIC FEATURES(Wiley-Blackwell, 2015) Uctepe, E.; Aktas, D.; Kasifoglu, M. A.; Sonmez, F. M.[Abstract Not Available]Öğe PHACOMATOSIS PIGMENTOVASCULARIS TYPE IIB ASSOCIATED WITH STURGE-WEBER SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE(Medecine Et Hygiene, 2013) Sonmez, F. M.; Aksoy, A.; Sari, A.; Erpolat, S.; Ozkaya, A. K.[Abstract Not Available]Öğe TWO CASES WITH EPILEPSY AND DYSMORPHIC FEATURES ASSOCIATED WITH 17Q21.31 MICRODELETION SYNDROME(Wiley-Blackwell, 2015) Uctepe, E.; Aktas, D.; Kasifoglu, M. A.; Gunduz, E.; Sonmez, F. M.[Abstract Not Available]Öğe VITAMIN D DEFICIENCY IN CHILDREN WITH NEWLY DIAGNOSED IDIOPATHIC EPILEPSY(Wiley-Blackwell, 2015) Sonmez, F. M.; Donmez, A.; Namuslu, M.; Canbal, M.; Orun, E.[Abstract Not Available]
