Genetics lecchromosomalaberrationproject

614 views

Published on

0 Comments
1 Like
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total views
614
On SlideShare
0
From Embeds
0
Number of Embeds
15
Actions
Shares
0
Downloads
26
Comments
0
Likes
1
Embeds 0
No embeds

No notes for slide

Genetics lecchromosomalaberrationproject

  1. 1. ChromosomalAberrations
  2. 2. Wolf-Hirschhorn SyndromE
  3. 3. deletion in the p arm (chromosome#4)Immunodeficientmicrocephaly/ small brainshort philtrumSeisuresmuscle hypotoniarenal abnormalitiesdeafness
  4. 4. Cri Du ChatSyndrome
  5. 5. deletion of p arm (chromosome#5)gastrointestinal and cardiac complicationsabnormal development of larynx and glottisoften mental retardedexcessive drooling“cry of the cat” cry like a cat
  6. 6. Jacobsen’s syndrome
  7. 7. deletion of a terminal region ofchromosome#11bleeding disorderheart defectswide set eyeslow set of misshapen earslarge toes
  8. 8. Pallister- KillianSyndrome
  9. 9. tetrasomy in the smallerarm of chromosome#1Epilepsyhypo/hyper pigmentationflat nosesupernumerary nipplespsychomotor retardation
  10. 10. PatauSyndrome
  11. 11. trisomic inchromosome#13polydactyl (6 fingers)cleft palatecutis apalasiakidney failures
  12. 12. IDIC 15(Isodicentric 15)
  13. 13. with extra genetic material inchromosome#15delayed language developmentEpicanthal folds in the eyeSeizuressome are mentally retardate
  14. 14. TAYAG, Patricia Ann J.VILLANUEVA, Mila Zosima A.AAPD2BGeneticsLecDr. Los Banos
  15. 15. edward’sSyndrome
  16. 16. trisomy for comosome#15kidney malformationarthrogryposis- jointabnormalitiesupturned noseunderdeveloped phalanges
  17. 17. DownSyndrome
  18. 18. trisomy in chromosome#21microgenia- small genitaloblique eye featuresmuscle hypotoniaintellectual disability
  19. 19. Cat EyeSyndrome
  20. 20. otrisomy/ tetrasomy inchromosome#22oabnormal obstruction of the anusoIris Coloboma- iris abnormalityoScoliosisohernias
  21. 21. Kline felter’sSyndrome
  22. 22. --only in male--44xxy--small testicles--have long arms and legs--below level intelligence--developed breasts--rounded lips--dyslexia
  23. 23. Metafemale
  24. 24. xxx syndromebionic womengenerally normal due to barrbodiestaller and leanerearlier menstruationclaw learners
  25. 25. TurnerSyndrome
  26. 26. •lack one sex chromosome•short stature•webbed neck•absence of menstral period•non-verbal disabilities
  27. 27. Jacob’sSyndrome
  28. 28. criminal syndromeaddtion of y chromosometall and leanantisocial/ uncontrol of temperhave severe acne problemshigh testosterone level

×