A six-year-old boy visits a clinic with repeated and persistent
lung and inner ear infections. Despite normal nutrition, the boy
shows signs of growth restriction with below average weight and
height and moderate microcephaly. He shows no problems with
coordination, balance or fine motor skills and no notable features
in the eyes. A blood test reveals extremely low T- and
B-lymphocytes and immunoglobulins (IgG, IgA, IgM).
a) Discuss which repair disorder you suspect, the
gene that may be mutated, and how defects in the corresponding
repair process manifest in these clinical features.
[500 Words minimum]
b) Whilst DNA repair is a crucial mechanism of
tumor suppression, not all DNA repair disorders result in
heightened cancer risk. Select one type of repair disorder not
associated with cancer and discuss how defects in that repair
process underpin the clinical features. [50 Words minimum]
AGE YEARS) Normal range (height) 383 120 115 110 105 100 Normal range (weight) *Patient 344 $$$ 8 8 8 8 8 8 8 88888 888 28 8 8 w -70 30 0 . o 50 20 * Patient -10 AGE YEARS) 10 11 12 13 14 15 16 11 23S
A six-year-old boy visits a clinic with repeated and persistent lung and inner ear infections. Despite normal nutrition,
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A six-year-old boy visits a clinic with repeated and persistent lung and inner ear infections. Despite normal nutrition,
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