Q:

A 2-year-old boy presented with failure to thrive, neonatal hypocalcemic seizure, and three attacks of sepsis. Examination reveals cleft palate and holo-systolic murmur

safaTerkawi
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2022-09-15
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 A 2-year-old boy presented with failure to thrive, neonatal hypocalcemic seizure, and three attacks of sepsis. Examination reveals cleft palate and holo-systolic murmur. Of the following, the genetic predisposition of this condition is

  1. microdeletions of chromosome 22q11.2
  2. interstitial deletion of the long arm of chromosome 15 (15q11-13)
  3. presence of two copies of paternally derived chromosome 11p15.5
  4. presence of mutated gene on long arm of chromosome 11 (11q22-23)
  5. presence of abnormal gene, on the proximal arm of the X chromosome at Xp11.22-11.23
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safaTerkawi
2022-09-15
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.(A). A. DiGeorge syndrome, 8. PraderWilli syndrome, C. Beckwith-Wiedemann syndrome,D. Wiskott-Aldrichsyndrome,and E.ataxia-telangiectasia

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