Mega Genetics Crossword

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Across
  1. 2. paucity of ______ (2 words) on biopsy in Alagille syndrome presenting with cholestasis
  2. 6. XXY, gynecomastia, infertile syndrome
  3. 7. stenosis of this structure is most common congenital cardiac condition in Noonan syndrome (2 words)
  4. 11. WAGR: the tumor
  5. 20. Compared to Trisomy 18: microphthalmia, holoprosencephaly, absence of epidermis and _____ are unique to Trisomy 13
  6. 21. inheritance type in Noonan syndrome (2 words)
  7. 22. 2 words: mandibular hypoplasia > displace tongue > interrupt closure of lateral palatine ridges > U-shaped cleft palate
  8. 24. Most common cardiac defect in DiGeorge
  9. 25. Turner syndrome: Risk of ___ for those who have Y chromosome material in all or some cells
  10. 27. 2 words: stenosis of this structure in achondroplasia leads to apnea, quadriparesis, hydrocephalus, growth delay, possible de
  11. 28. 2 words/1 number: mutations in this gene in osteogenesis imperfecta
  12. 30. electrolyte abnormality in Digeorge
Down
  1. 1. WAGR syndrome: absence of iris
  2. 3. Down syndrome: hematologic surveillance due to risk of transient myeloproliferative disorder transforming into ___ (abbrev.)
  3. 4. Most common cause of death in Trisomy 18 (2 words)
  4. 5. type of hands in achondroplasia
  5. 8. the "G" in WAGR syndrome
  6. 9. pattern of anomalies that result from single identifiable event in development
  7. 10. Alagille syndrome: prominent white ring of Schwalbe and iris strands ie posterior ____
  8. 12. Down syndrome: C1-C2 instability
  9. 13. GI issue in both Cornelia de Lange and Russell Silver syndromes
  10. 14. vertebrae in Alagille syndrome
  11. 15. Down syndrome: screen for abnormalities of this endocrine system
  12. 16. Achondroplasia: prominent forehead of "forehead ____"
  13. 17. Down syndrome: ________ and Hirschsprung in 5-10% of children (2 words)
  14. 18. Down syndrome: ASDs, VSDs and atrioventricular ____ defects most common cardiac
  15. 19. OI type 1: Multiple fractures, delayed _____ closure, hyperextensible joints, hearing loss, dentinogenesis imperfecta
  16. 23. OI type 3: neurologic involvement may include _____ and basilar skull invagination
  17. 26. Syndrome with friendly, loquacious personality; Elfin facies; strabismus and hypercalcemia
  18. 29. treat Noonan syndrome with this hormone