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      Dr SIngh Medicine logoDrSingh
      Keymaster
        ● Down’s syndrome = Trisomy 21

      ○ Genetic pathophysiology?
      ■ maternal nondisjunction (failure to separate in meiosis I or II)
      ■ Robertsonian translocation (RT)
      ○ Early onset neuro dz? Alzheimer dz (presenilin is on chromosome 21)
      ○ Classic hematologic malignancy? ALL (TdT positive)
      ■ “ALL fall Down”
      ○ Considerations before beginning sports? Cervical XR to screen for atlanto-axial instability
      ○ Hand findings? Single palmar crease
      ○ Common cardiac defect? Endocardial cushion defects (endocardial cushion derived from neural crest)
      ○ Common GI defects?
      ■ Hirschprung’s
      ■ duodenal atresia (bilious vomiting, double bubble)
      ■ pyloric stenosis (first 8 weeks of life, non-bilious vomiting, olive-shaped mass, erythromycin exposure increases risk)
      ○ Maternal quad screen findings
      ■ High beta-hcg & inhibin A
      ■ Low AFP & estriol
      ■ “HIGH” → hCG & inhibin are high

      • This topic was modified 3 years, 8 months ago by Dr SIngh Medicine logoDrSingh.
      • This topic was modified 3 years, 8 months ago by Dr SIngh Medicine logoDrSingh.
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