Chromosomal abnormalities case studies Flashcards

1
Q

Jacob’s syndrome

Chromosomal abnormality

A
  • Male offspring receives an extra copy of the Y chromosome from father, resulting in XYY genotype
  • Not inherited, but occurs due to the random attribution of an extra Y chromosome to a sperm during spermatogenesis (meiosis II)
  • Low frequency of 1 in 1000 births
  • Mild effects on the individual: increased risk of comorbid conditions like asthma, autism, and learning difficulties, as well as taller than average height and large head size. May cause infertility
  • Condition is not hereditary
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2
Q

Triple X syndrome

Chromosomal abnormality

A
  • Genotype: XXX
  • Caused by a random error in cell division, usually the non-disjunction of the X chromosome in either the mother or father
  • Mild effects, including taller than average height, kidney problems, and flat feet. May cause intellectual disabilities or behavioural problems
  • For the most part, the effects of Triple X syndrome are not profound because X-inactivation mechanism deactivates the other 2 X chromosoes in females with this condition
  • Condition is not hereditary
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