soyağacı görüntüleme

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, soyağacı görüntüleme 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 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. In this study, 20 The mean age of the patients was 6.

Soyağacı görüntüleme

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In the analysis of patients' pedigrees in group 3, it has been suggested that 14 patients could have autosomal recessive, soyağacı görüntüleme, one patient could have autosomal dominant inheritance.

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Soyağacı görüntüleme

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A 1st and 2nd degree consanguineous marriage histories were present in nine 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. There was one Four The cases included in the study have been divided into three groups. Detailed neurological examination and cranial MRI examination were performed in all patients. Two There were three The mean age of the patients was 5. There were nine patients in group 1. A 1st and 3rd degree consanguineous marriage histories were present in five 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 on admission was 6.

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A pedigree for each patient has been established in all 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. The mean age on admission was 6. The cases included in the study have been divided into three groups. A total of 35 index patients, with nine 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. There were seven patients in group 2. In the analysis of patients? Ten 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. Detailed physical and neurological examination were perfomed in all patients. In this study, 20 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.

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