Autosomal recessive MCQ 8+

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• Autosomal recessive disorder are:
  ক

  Thalassaemia

  খ

  Phenylketonuria

  গ

  Congenital adrenal hyperplasia

  ঘ

  Von willebrands disease

  ঙ

  Achondroplasia
• Following are the autosomal recessive disorders:
  ক

  Galactosemia

  খ

  Mucopolysaccharidosis

  গ

  Neurofibromatosis

  ঘ

  Haemophilia

  ঙ

  Sydenham’s chorea
• Following are the autosomal recessive disorders
  ক

  Galactosemia

  খ

  Mucopolysaccharidosis

  গ

  Neurofibromatosis

  ঘ

  Haemophilia

  ঙ

  Sydenham’s chorea
• Examples of autosomal recessive disorders are
  ক

  Cystic fibrosis

  খ

  Spinal muscular atrophy

  গ

  Familial hypercholesterolemia

  ঘ

  Diabetes insipidus

  ঙ

  Duchenne muscular dystrophy
• Features of autosomal recessive disorders are
  ক

  Not expressed in heterozygous state

  খ

  Onset usually in early life

  গ

  Reduced penetrance

  ঘ

  Disease expression not uniform

  ঙ

  Females are more affected
• When a patient inherits a disease as a recessive autosomal character
  ক

  Both parents of the patient must carry the recessive genes

  খ

  One of the parents of the patient must exhibit the disease

  গ

  All childrens of the patient may exhibit the disease

  ঘ

  All childrens of the patient will be carrier

  ঙ

  Siblings of the patient have a 50% risk of the disorder

  চ

  if both parents of the patient are carrier
• Autosomal recessive disorders are
  ক

  Thalassemia

  খ

  Glycogen storage disease

  গ

  Familial hypercholesterolemia

  ঘ

  Hypertension

  ঙ

  Mosaicism