N Misovicová

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BACKGROUND Leber's hereditary neuropathy of the optic nerve (LHON) is manifested by bilateral affection of the eyes with acute or subacute loss of vision. The disease is caused by point mutations in the mitochondrial DNA (mtDNA) and is one of the most frequent mitochondrial diseases in the population. In patients with LHON 18 different point mutations in(More)
The authors present a case report of 26 years old man with bilateral optic nerve neuropathy. Detection of heteroplasmic mutation of mitochondrial DNA at G3460A site confirmed the suspicion on Lebers hereditary optic nerve neuropathy (LHON). Genetic and environmental factors of the disease and various accompanying neurologic and other symptoms, which can(More)
The authors describe a female patient with bilateral colobomatous malformations of the uvea in conjunction with anorectal atresia and other symptoms suggesting Schmid-Fraccaro's syndrome called also cat eye syndrome. Using fluorescent hybridization in situ, the authors identified the supernumerous bisatellite marker chromosome derived from chromosome 22(More)
Mental retardation (MR) is a frequent manifestation in patients referred to departments of medical genetics (OLG). At the OLG in Martin their number in the years 1981-1985 was 324, i.e. 21.22% of the total number of examined subjects. MR was found as one of the pathological symptoms (symptomatic MR) in 86.73% and as the only pathological manifestation(More)
BACKGROUND The autosomal recessive Nijmegen breakage syndrome (NBS) is a DNA repair disorder due to a mutation in the NBS1 gene on 8q21. Hyperradiosensitivity and high risk for lymphoreticular malignancy are important reasons for early diagnosis and prevention by avoidance of ionisation. The frequency of NBS heterozygotes of the mutation 657de15, which is(More)
BACKGROUND Juvenile hyaline fibromatosis is a sporadic hereditary disease with autosomal recessive mode of inheritance, characterized by the presence of nodules and tumours in the skin and soft tissues and gingival hyperplasia. The majority of patients are growth retarded, suffer from joint disorders, contractures, osteolytic lesions and have a positive(More)
The authors present a newborn infant from the second pregnancy whose mother experienced influenza A infection in the first trimester. The birth was at term without complications, but 11 hours later, cyanosis and tachypnoe developed. The final diagnosis was hypoplastic left heart syndrome with simultaneous Moebius Syndrome. In conclusion the authors indicate(More)
In the child population in the district of Dolný Kubín the authors screened during a five-year period children with a suspect genetic aetiology of affections. They examined a total of 1058 children, i.e. 2.34% of the child population in the district. The results were compared with a control group of children examined as a result of previous screening. From(More)