3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report.

Background: 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen.

Increased nuchal translucency and pregnancy outcomes: experience of Başkent University Ankara Hospital.

Objective: First trimester nuchal translucency (NT) measurement is considered to be an important tool in antenatal follow-up. This study aimed to evaluate the outcomes of pregnancies with increased NT at Başkent University Ankara Hospital between 2004 and 2016.

Materials And Methods: Patients with NT measurements ≥1.

Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors.

Turan Ö, Anuk-İnce D, Olcay L, Sezer T, Gülleroğlu K, Yılmaz-Çelik Z, Ecevit A. Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors. Turk J Pediatr 2017; 59: 71-75.

Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients.

Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease.

Autosomal Dominant Osteopetrosis Type II.

Osteopetrosis is a rare genetic disorder caused by osteoclast failure. Dominant negative mutations of the ClCN7 gene cause the so-called, autosomal dominant osteopetrosis type II, which represents the most frequent and heterogeneous form of osteopetrosis, ranging from asymptomatic to intermediate-severe, thus suggesting additional genetic and environmental determinants affecting penetrance. Here, we present a case a 46 year-old woman complained low back pain for 15 years.