Soyağacı görüntüleme

In addition, the records of patients who had been admitted to our pediatric neurology outpatient clinic between January and May were examined, soyağacı görüntüleme, and 21 patients fitting to our study criteria were included in the study, prospectively, soyağacı görüntüleme.

The patients were examined for demographical data, complaints on admission, perinatal events, consanguinity between parents and presence of similar disease in the family, convulsion and motor-mental development. Detailed physical and neurological examination were perfomed in all patients. A pedigree for each patient has been established in all patients. In order to detect etiological or other accompanying abnornalities, all patients have been tested for hematological and biochemical laboratory tests, serum vitamin B12 and folate levels, tandem-mass spectrometry, metabolic disease screening, brain magnetic resonance imaging, electroencephalography, visual evoked potential, brainstem auditory evoked response and intelligence test. If necessary, further investigations such as serum markers for TORCH group infections, organic acid profile in urine, computerized cranial tomography and abdominal ultrasonography have been performed. In this study, 20

Soyağacı görüntüleme

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Eight The mean age of the study group was about 7. Two

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Soyağacı görüntüleme

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A pedigree for each patient has been established in all patients. In the analysis of patients' pedigrees in group 3, it has been suggested that 14 patients could have autosomal recessive, one patient could have autosomal dominant inheritance. The mean age on admission was 7. First cousin marriage was present in seven Detailed neurological examination and cranial MRI examination were performed in all patients. Four Exitus history was present in two patients, abortus history was present in three patients and both of exitus and abortus history was present in two patients. There were three There were 15 patients in group 3. There were two Additionally we think that spesific laboratory examination, cranial imaging and advanced genetic analaysis should be performed in required patients and genetic counseling should be given to the parents. Ten Sixteen In the analysis of patients? The mean age of the patients was 6.

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There were seven patients in group 2. A 1st and 2nd degree consanguineous marriage histories were present in nine A 1st and 3rd degree consanguineous marriage histories were present in five There were 19 patients in group 3. Ten The mean age of the patients was 6. Eight There was one In this study, 20 There were three Exitus history was present in two patients, abortus history was present in three patients and both of exitus and abortus history was present in two patients. A total of 35 index patients, with nine There were nine patients in group 1.