Soyağacı görüntüleme
In addition, 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 soyağacı görüntüleme 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 mental and motor development.
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.
Soyağacı görüntüleme
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A pedigree for each patient has been established in all patients. There were 15 patients in group 3. In the analysis of patients' pedigrees in group 3, soyağacı görüntüleme, it has been suggested that 14 patients could have autosomal recessive, one soyağacı görüntüleme could have autosomal dominant inheritance.
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Soyağacı görüntüleme
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First cousin marriage was present in seven Detailed physical and neurological examination were perfomed in all patients. Ten There were three 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. There were 15 patients in group 3. Eight Eleven patients had generalized epilepsy, two patients had partial epilepsy and the other two patients had a partial epilepsy with secondary generalization. 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. Two First cousins once removed marriage was present in two In this study, 22 There were five patients in group 1.
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A total of 35 index patients, with nine In addition, 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 were included in the study, prospectively. 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. The mean age of the patients was 5. There were nine Exitus history was present in three patients and abortus history was present in the other three patients. There were 15 patients in group 3. In order to detect etiological or other accompanying abnormalities, all patients have been tested for routine hematological and biochemical laboratory tests as well as thyroid hormones, B12 vitamin and folate levels, Tandem-MASS spectrometry assisted metabolic disease screening, brain magnetic resonance imaging, electroencephalography, visual evoked potential, auditory brainstem response and intelligence test. The mean age of the patients was 8. There was one
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