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Öğe Meirer-gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype(Editions Medecine et Hygiene, 2016) Paksoy, B.; Sılan, Fatma; Yildiz, O.; Ozdemir, O.; Tas, Z.T.Meirer-Gorlin syndrome: A primordial dwarfic rare case with growth and mental retardation in normal karyotype: The Meier-Gorlin syndrome (MGS) / ear, patella, short stature syndrome (MIM 224690) is an autosomal recessive inherited disorder. Point mutations of ORC1, ORC4, ORC6, CDT1, and CDC6 genes that play crucial role in the origin recognition complex for DNA replication were reported in MGS. Here, we report a 9 years old boy with some clinical findings diagnosed as MGS. This case was the 4th child of a first degree relative couple and born with 3 kg weight in the 37th week of gestation (at the birth time mother was 29 and father was 39 years old). The case showed short stature, failure to thrive, microcephaly, micrognathia, mandibular hypoplasia, bilateral microtia, full lips, long eyelashes, mental retardation and hypoplastic patellas. He was evaluated as a normal chromosomal structure after lymphocyte cell culture and GTG-banding karyotype analysis (46,XY). The genetic counseling was given and he was followed for growth and mental retardation.Öğe MEIRER-GORLIN SYNDROME: A PRIMORDIAL DWARFIC RARE CASE WITH GROWTH AND MENTAL RETARDATION IN NORMAL KARYOTYPE(Medecine Et Hygiene, 2016) Paksoy, B.; Sılan, Fatma; Yildiz, O.; Ozdemir, O.; Tas, Z. T.Meirer-Gorlin syndrome: a primordial dwarfic rare case with growth and mental retardation in normal karyotype: The Meier-Gorlin syndrome (MGS) / ear, patella, short stature syndrome (MIM 224690) is an autosomal recessive inherited disorder. Point mutations of ORC1, ORC4, ORC6, CDT1, and CDC6 genes that play crucial role in the origin recognition complex for DNA replication were reported in MGS. Here, we report a 9 years old boy with some clinical findings diagnosed as MGS. This case was the 4th child of a first degree relative couple and born with 3 kg weight in the 37th week of gestation (at the birth time mother was 29 and father was 39 years old). The case showed short stature, failure to thrive, microcephaly, micrognathia, mandibular hypoplasia, bilateral microtia, full lips, long eyelashes, mental retardation and hypoplastic patellas. He was evaluated as a normal chromosomal structure after lymphocyte cell culture and GTG-banding karyotype analysis (46,XY). The genetic counseling was given and he was followed for growth and mental retardation.Öğe Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population(Wiley-Blackwell, 2017) Kilic, S.; Ozdemir, O.; Sılan, Fatma; Isik, S.; Yildiz, O.; Karaagacli, D.; Sılan, CoşkunBackground. Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. Aim. To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. Methods. The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis. DNA was extracted from peripheral blood samples of patients and HCs, and real-time PCR was used for genotyping. Results were compared by Pearson chi(2) test and multiple logistic regression models. Results. The frequency of both the MTHFR 677TT and A1298C (homozygous) genotypes was statistically significantly different from HCs. Point mutations were detected in all patients with early-onset psoriasis (before the age of 20 years). The T allele of MTHFR 677 and the C allele of MTHFR 1298 increased psoriasis risk by 12.4-and 17.0-fold, respectively, in patients compared with HCs. Conclusion. A possible association was detected betweengermline MTHFR 677 C>T and 1298 A>C genotypes and psoriasis risk in a Turkish population. These results need to be confirmed in further studies with larger sample sizes.