Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome.

Congenital adducted thumb has been called variously as congenital clasped thumb, thumb in palm deformity or flexion adduction deformity of the thumb. This condition can be an isolated anomaly or associated with several genetic disorders. The syndromes that include adducted thumb as a cardinal feature such as Dundar Syndrome are few in the literature.

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen.

Methods: Clinical data in a large consanguineous family with four affected members were reviewed, and genomic DNA was extracted.

A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.

A clear cut genotype-phenotype correlation for Krabbe disease is not available. Therefore, it is important to identify new mutations and their associated phenotypes to predict the prognosis of the disease. The aim of this study is to identify the causative mutation(s) in a family with Krabbe disease.

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

The objective of the study was the characterization of ABCA1 gene mutations in 10 patients with extremely low HDL-cholesterol. Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). Three of them were homozygous for novel mutations either in intron (c.

Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn.

Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4.

Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype.

Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly and characteristic facial features. Although the phenotype of the patient has similarities with Cornelia de Lange Syndrome they are etiologically different. We report here a 9 months old baby boy with partial duplication of 3q and features similar with Cornelia De Lange syndrome.

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Objective: To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis.

Design: Whole-exome sequencing in the context of clinical genetics.

Setting: University hospital.

Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.

Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children. They are performed on blood, tissues or other body fluids. In recent years, the screening tests and diagnostic tests have improved quickly and, as a result, the risks of pregnancy can be determined more commonly and physicians can diagnose several genetic disorders in the prenatal period.

Healthcare in overview of Turkey.

Turkey is one of the leading countries with its developing economy, high young population, and with its geopolitical location being an intersection between Asia and Europe. It is aimed at setting a good example for developed and developing countries with its health policy targets. We reported and discussed here the demographic data of Turkish population, the main aims of Ministry of Health, social security system and its scope and structure, health services, healthcare institutions and their infrastructures, human resources in health, health staff training and also outline of Turkish foreign policy.

A case with a rare chromosomal abnormality: isochromosome 18p.

Isochromosome 18p (i(18p)), is a rare chromosomal disorder that occurs once in about every 140,000 live births and affects males and females equally. Most of the cases are due to a de novo formation but in the literature familial cases were reported. Here, we report a young female with dysmorphic features as microcephaly, frontal bossing, strabismus, low-set ears, small pinched up nose, small mouth, high palate and long philtrum, presenting a small metacentric chromosome.