A case of Roberts syndrome: its ultrasonographic characteristics and genetic diagnosis

Objective: Roberts syndrome is a very rare genetic disease, and it has an autosomal recessive inheritance pattern. It develops as a result of the mutation in ESCO2 gene located in the 8th chromosome. In our study, we aimed to present a case which was found to have Roberts syndrome coexisting with multiple anomalies, particularly skeletal system anomaly, in the 17 weeks of gestation. Case(s): In the fetal ultrasonographic evaluation performed on the pregnant women who referred to our hospital for routine gestational examination in the 17 weeks of gestation, anomalies in the bilateral upper and lower extremities, contracted legs, bilateral cleft palate and lip, intrauterine growth restriction and cardiac anomaly were found in the fetus. Roberts syndrome was considered first with these ultrasonographic findings. The diagnosis of Roberts syndrome was confirmed by cytogenetic and molecular analyses. Early segregation of centromeres and early breaking up of heterochromatic regions near centromeres were found at metaphase stage. By cytogenetic and molecular analyses, homozygous mutation in ESCO2 gene of the fetus and heterozygous mutation in the parents were found. The termination of pregnancy was decided after the genetic consultation with the parents. Physical examination findings and prenatal ultrasound findings after termination were found similar. Conclusion: Many severe skeletal dysplasia cases can be diagnosed ultrasonographically before 20 weeks of gestation. Early diagnosis ensures to take necessary actions for medical support during postnatal period and in terms of labor if pregnancy continues as well as genetic consultation opportunity. If the genetic disease that causes skeletal dysplasia can be identified and parents are found to have this gene, healthy pregnancies can be achieved by obtaining normal embryos via pre-implantation genetic diagnosis in order to prevent the relapse of the disease

Translocation t(12;22)(p13;q11) in a patient with AML M1

WOS: 000411861000170

The role of MTHFR C677T and A1298C Polymorphysms in the Ethiopathogenesis of Diabetic Neuropathy

Amaç: Bu çalışmada MTHFR geni C677T ve A1298C polimorfizmlerinin diyabetik periferik polinöropati patogenezine katkısı olup olmadığını araştırdık. Gereç ve Yöntem: Hasta grubu, Selçuk Üniversitesi Meram Tıp Fakültesi İç Hastalıkları Anabilim Dalı Endokrinoloji Polikliniğine başvuran, en az 10 yıldır Tip 2 DM tanısı nedeniyle takip edilen ve ENMG tetkiklerinde Diabetik Periferik Polinöropatisi olan 103 hastadan oluşturuldu. Kontrol grubu ise 2010 yılında Konya ilinde yaşayan rastgele seçilmiş 100 sağlıklı gönüllüden seçildi. Hasta ve kontrol grubundan yazılı onay alındıktan sonra kanları alındı. Pyrosequence tekniği ile MTHFR geni C677T ve A1298C polimorfizmleri araştırıldı. Bulgular: Araştırmamızda diyabetik nöropatili bireyler ile sağlıklı kontrol grubu karşılaştırıldığında MTHFR geni C677T ve A1298C polimorfizmlerinin genotip ve allel frekansları için istatistiksel olarak anlamlı bir farklılık bulunamadı. Bununla birlikte 2 ve daha fazla mutant alleli olan bireylerin, 1 ve daha az mutant alleli olan bireylerle karşılaştırıldığında diyabetik nöropati grubunda kontrol grubuna göre anlamlı bir şekilde (P 0.01) yüksek olduğu tespit edildi. Sonuç: Tip 2 DM hastalarında MTHFR geni C677T ve A1298C polimorfizmleri, polimorfik allel sayısı arttıkça diyabetik periferik polinöropati gelişimine yatkınlık sağlayabilir. Ancak diyabetik periferik polinöropatilerin poligenik doğası ve çevresel faktörlerden etkilenmesi, MTHFR gen polimorfizmlerinin tek başına etkisini ortaya koymayı zorlaştırmaktadır. Bu nedenle hasta ve kontrol gruplarının daha fazla sayıda olduğu, farklı etnik grupları içeren, çok merkezli daha geniş ölçekli araştırmalarla diyabetik periferik polinöropatilerin genetik nedenleri aydınlatılabilir.Objective: In this study, we investigated whether MTHFR gene C677T and A1298C polymorphisms contribute to the etiopathogenesis of diabetic peripheral neuropathies. Materials and Methods: The patients group was constituted 103 individuals with diabetic peripheral polyneuropathy diagnosed by electrophysiological techniques who were followed the diagnosis of type 2 DM at least 10 years at the Selçuk University Meram Medical School, Department of Internal Medicine. The control group was constituted 100 healthy volunteers randomly selected and living in Konya. Blood samples were collected after written consent from patients and control group. MTHFR gene C677T and A1298C polymorphisms was investigated using pyrosequence technique. Results: In our study, there was not found any statistically significant diffrences allele and genotype frequencies of MTHFR gene C677T and A1298C polymorphisms when patient and control groups were compared. Nevertheless, the number of individuals who had 2 or more the mutant allele in the patients group were significantly higher than the control group, compared with the number of individuals who had 1 and less than the mutant allele (P 0.01). Conclusion: As the number of polymorphic alleles of MTHFR gene C677T and A1298C polymorphisms in type 2 DM patients may predispose to the development of diabetic peripheral polyneuropathy. But, polygenic nature of diabetic peripheral polyneuropathy and influenced of environmental factors makes it difficult to reveal the effect of MTHFR gene polymorphisms in diabetic peripheral polyneuropathy. Thus the genetic causes of diabetic peripheral polyneuropathies may be elucidated by large-scale multi-center studies containing different ethnic groups and consisting of more individuals

Translocation t(6;9)(p22;q34) in a patient with acute myeloblastic leukemia

WOS: 000411861000169