Genetic disorders MCQ 7+

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• Spinal muscular atrophy
  ক

  Affects the peripheral nerve

  খ

  Associated with less fetal movements

  গ

  Presents with preserved intellectual function

  ঘ

  Associated with arthrogryposis multiplex congenita

  ঙ

  Is autosomal dominant disorder
• The correct genotype of down syndrome is/are
  ক

  47

  খ

  xy

  গ

  +21

  ঘ

  47

  ঙ

  xy

  চ

  +13 ’

  ছ

  47

  জ

  xy

  ঝ

  +18
• Karyotyping is indicated in
  ক

  Down syndrome

  খ

  Recurrent loss of pregnancy

  গ

  Primary ammenrrhoea

  ঘ

  Meningomyelocele

  ঙ

  Fallot's Tetralogy
• Following diseases are transmitted from consanguineous couple to their offspring
  ক

  Wilson's disease

  খ

  Congenital adrenal hyperplasia

  গ

  Galactosemia

  ঘ

  Huntington's chorea

  ঙ

  Marfan syndrome
• Prenatal diagnosis is possible in
  ক

  Down Syndrome

  খ

  Beta thalassaemia

  গ

  Duchene muscular dystrophy

  ঘ

  Laryngomalacia

  ঙ

  Diabetes mellitus
• True statements regarding identify a specific genetic cause in a dysmorphic child are
  ক

  Family history can give clue

  খ

  Birth history can give clue

  গ

  Thorough physical examination can give clue

  ঘ

  PCR can accurately identify the cause

  ঙ

  Microarray is the definite genetic test