Soyağacı görüntüleme

In addition, soyağacı görüntüleme, the records of patients who had been admitted to our pediatric neurology outpatient clinic between January and May were examined, retrospectively, and 21 patients fitting to our study criteria soyağacı görüntüleme included in the study, prospectively. 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 mental and motor development. Detailed neurological examination and cranial MRI examination were performed in all patients.

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 The mean age of the patients was 6.

Soyağacı görüntüleme

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Key Words: Child, pedigree, familial epilepsy, intellectual disability, soyağacı görüntüleme, motor retardation. A pedigree for each patient has been established in all patients.

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Soyağacı görüntüleme

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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. The mean age of the patients was 6. There were three There were five patients in group 1. Detailed neurological examination and cranial MRI examination were performed in all patients. The mean age of the patients was 8. Exitus history was present in two patients and abortus history was present in one patient. There were nine 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. 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.

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Four Exitus history was present in two patients and abortus history was present in one patient. There was one There were three There were seven patients in group 2. There were 19 patients in group 3. One 6. The mean age of the patients was 6. In the analysis of patients? A 1st and 2nd degree consanguineous marriage histories were present in nine Three 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. The mean age of the patients was 8. Additionally, we think that specific laboratory and cranial imaging examinations and advanced genetic analyses should be performed and, a genetic counseling should be given to the family, in required patients. If necessary, further investigations such as serum markers for TORCH group infections, organic acid profile in urine, serotonin level, computerized cranial tomography, abdominal ultrasonography and bone survey have been performed.