Chorionic villus sampling: What are chorionic villi? Genetically, the villi originate from the fetus. Cells obtained from the chorion therefore provide reliable information about hereditary diseases, inborn errors of metabolism and chromosomal disorders of the child. Chorionic villus sampling: What diseases can be detected? Trisomy 13 (Pätau syndrome) Trisomy 18 (Edwards syndrome) Trisomy 21 (Down … Chorionic villus sampling: What’s behind it
Brief overview What is Angelman syndrome? Rare genetic disorder characterized by mental and physical impairments in child development. Symptoms: doll-like facial features, developmental disorder, impaired coordination, little or no language development, decreased intelligence, seizures, laughing for no reason, fits of laughter, excessive drooling, waving arms joyfully Causes: Genetic defect on chromosome 15. Diagnosis: including interview, … Angelman Syndrome: Signs, Therapy
Brief overview Course:Individually different degrees of motor and mental disability and organic concomitant diseases. Prognosis:Dependent on severity of disability, medical care and early intervention, life expectancy over 60 years, higher mortality in childhood. Causes: Three (instead of two) copies of chromosome 21 are found in all or some body cells of affected individuals. Symptoms: Short … Down Syndrome (Trisomy 21)
Brief overview Symptoms: Pronounced muscle weakness, lack of satiety with excessive food intake, altered facial features, short stature, developmental delays, impaired pubertal development Progression and prognosis: Prader-Willi syndrome requires comprehensive medical care to counteract complications. Life expectancy is usually normal if body weight can be controlled. Causes: Prader-Willi syndrome is caused by a genetic change … Prader-Willi Syndrome: Causes and Treatment
Brief overview Symptoms: During an attack, the eyes and possibly the skin turn yellow, and sometimes symptoms such as headaches, abdominal pain, tiredness and loss of appetite occur. Treatment: Treatment or a special diet are not normally necessary, but abstaining from alcohol and nicotine is helpful. Causes: Meulengracht’s disease is caused by changes in the … Morbus Meulengracht: Symptoms, Nutrition
Brief overview What is spinal muscular atrophy? A group of muscle weakness diseases. They are due to the death of certain nerve cells in the spinal cord that control muscles (motor neurons). Therefore, SMAs are categorized as motor neuron diseases. What are the different forms? In the case of hereditary spinal muscular atrophies with a … Spinal Muscular Atrophy (SMA)
