13. GENETIC DISORDERS AND CHROMOSOMAL ABNORMALITIES Flashcards

1
Q
  1. Name the 6 types of Genetic Disorders?
A
  1. Autosomal Recessive Disorders
  2. Autosomal Dominant Disorders
  3. X-Linked Recessive Disorders
  4. X-Linked Dominant Disorders
  5. Y-Linked Disorders
  6. Mitochondrial Disorders
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2
Q
  1. List the 5 Autosomal Recessive Disorders?
A
  1. Cystic Fibrosis
  2. Sickle Cell Anaemia
  3. Alpha (⍺) Thalassaemia
  4. Beta (β) Thalassaemia
  5. Albinism
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3
Q
  1. List the 2 Autosomal Dominant Disorders?
A
  1. Huntington’s Disease
  2. Achondroplasia
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4
Q
  1. List the 3 X -Linked Recessive Disorders?
A
  1. Haemophilia
  2. Colour Blindness
  3. Duchenne Muscular Dystrophy
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5
Q
  1. List the 2 X-Linked Dominant Disorders?
A
  1. Vitamin D Resistant (Hypophosphataemic) Rickets
  2. Alport Syndrome
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6
Q
  1. List the 1 Y-Linked Disorder?
A
  1. Swyer Syndrome
    (XY Gonadal Dysgenesis)
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7
Q
  1. List the 2 Mitochondrial Disorders?
A
  1. Mitochondrial Myopathy
  2. Leber’s Optic Neuropathy
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8
Q
  1. Name the 4 types of Chromosomal Abnormalities?
A
  1. Autosomal Aneuploidy
  2. Sex Chromosome Aneuploidy
  3. Autosomal Structural Abnormality
  4. Sex Chromosome Structural Abnormality
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9
Q
  1. List the 3 Autosomal Aneuploidy Abnormalities?
A
  1. Down Syndrome
  2. Edward Syndrome
  3. Patau Syndrome
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10
Q
  1. What is Aetiology of Down Syndrome?
A
  • Trisomy 21
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11
Q
  1. What is Aetiology of Edward Syndrome?
A
  • Trisomy 18
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12
Q
  1. What is Aetiology of Patau Syndrome?
A
  • Trisomy 13
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13
Q
  1. List the 2 Sex Chromosome Aneuploidy Abnormalities?
A
  1. Klinefelter Syndrome
  2. Turner Syndrome
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14
Q
  1. What is the Aetiology of Klinefelter Syndrome?
A
  • XXY
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15
Q
  1. What is the Aetiology of Turner Syndrome?
A
  • XO
  • this is a type of Monosomy
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16
Q
  1. List the 2 Autosomal Structural Abnormalities?
A
  1. Cri du Chat Syndrome
  2. Chronic Myelogenous Leukaemia (CML)
17
Q
  1. What is the Aetiology of Cri Du Chat Syndrome?
A
  • part of Chromosome 5 is missing
18
Q
  1. What is the Aetiology of Chronic Myelogenous Leukaemia (CML)?
A
  • there has been a translocation between Chromosome 9 and Chromosome 22
19
Q
  1. List the 1 sex Chromosome Structural Abnormality?
A
  1. XX Male Syndrome
20
Q
  1. What is the Aetiology of XX Male Syndrome?
A
  • the SRY gene has been translocated onto the X
    Chromosome from the Y cChromosome