Keywords Disease name and synonyms Definition Classification Differential diagnosis Prevalence Clinical description Management including treatment Diagnostic methods Etiology Genetic counseling Antenatal diagnosis References Abstract Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spastici...

Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidemiological data for other forms are not currently available.The clinical picture is highly variable. The X-linked form usually gives...

Two manifestations of hybrid dysgenesis were studied in flies with chromosomes derived from two different P strains. In one set of experiments, the occurrence of recessive X-linked lethal mutations in the germ cells of dysgenic males was monitored. In the other, the behavior of an X-linked P-element insertion mutation, snw, was studied in dysgenic males and also in dysgenic females. The chromos...

E A R L Y in radiation genetic investigations it was reported that X-ray-induced sex-linked recessive lethals were not homogeneous in composition. Instead they included: ( 1 ) apparent intragenic changes without observable cytological abnormalities (point mutations) ; (2) deficiencies; and (3) changes associated with and, for the most part, inseparable from chromosome rearrangements (OLIVER 193...

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. this syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. umn signs are less frequent. until 2007, only fifty eight cases were reported. half of the reported cases were sporadic. in the remaining ...

Hemophilia A, B are X-linked recessive bleeding disorder that typically results from a deficiency of clotting factor VIII (FVIII) and IX (FIX). The severity the disease is determined according to FVIII FIX levels. A have similar symptoms both characterized by bleeding, particularly in large joints such as ankles, knees, elbows. Recurrent eventually causes progressive hemophilic arthropathy. Lif...

Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct. The present study was performed to briefly explain the genetics, molecular biology and epidemiology of HL in Middle East especially in Iran. Methods: An intense an...