how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22.   pls see pdf.

Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsuli...

We aimed to describe the causes, characteristics, and rate of parental consanguineous marriage associated with patients with visual impairments in Turkey. This study involved 236 patients with visual impairments. The 10th revision of the International Classification of Diseases was used to categorize the causes of visual impairments (based on the main cause in both eyes). The mean age of the pa...

UNLABELLED Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic cou...

Introduction: The occurrence of consanguineous marriages has been common in the Arab populations due to socio-cultural factors. Genetic diseases are rare overall population, but their frequency unusually increases as prevalence increases. aim our pilot study was investigate extent consanguinity and its effects on non-communicable genetic diseases, Emirati population. Methodology: This research ...

OBJECTIVE To assess birth and gene frequencies of specific autosomal recessively inborn errors of metabolism (IEM) within different ethnic groups. DESIGN Retrospective study in a regional centre for investigation and treatment of IEM. SUBJECTS All children born within the West Midlands NHS Region, UK, during the decade immediately preceding the 1991 National Census. METHODS Birth frequenc...

In the last decade, the Costa Rican Central Valley population (CRCV), has received considerable scientific attention, attributed in part to a particularly interesting population structure. Two different and contradictory explanations have emerged: (1) An European-Amerindian-African admixed population, with some regional genetic heterocigosity and moderate degrees of consanguinity, similar to ot...