Your SlideShare is downloading. ×
0
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education
Upcoming SlideShare
Loading in...5
×

Thanks for flagging this SlideShare!

Oops! An error has occurred.

×
Saving this for later? Get the SlideShare app to save on your phone or tablet. Read anywhere, anytime – even offline.
Text the download link to your phone
Standard text messaging rates apply

Types of Genetic Disorder - Genetics MRCP 1 - 123Doc Education

1,933

Published on

Types of Genetic Disorder, as part of the Genetics MRCP 1 course. These are slideshows only. The demonstration with video presentation and explanation that goes along with these slides, as well as …

Types of Genetic Disorder, as part of the Genetics MRCP 1 course. These are slideshows only. The demonstration with video presentation and explanation that goes along with these slides, as well as free example exam questions and the paid full e-lecture can be viewed at https://www.123doc.com/electures/genetics/

Published in: Health & Medicine, Technology
0 Comments
9 Likes
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total Views
1,933
On Slideshare
0
From Embeds
0
Number of Embeds
1
Actions
Shares
0
Downloads
106
Comments
0
Likes
9
Embeds 0
No embeds

Report content
Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
No notes for slide

Transcript

  • 1. Genetics MRCPCH Part 1 Dr M Bhat Demonstration
  • 2. Genes are on chromosomes
  • 3. Types of Genetic Disorder • Chromosomal • Single Gene • Contiguous gene disorder • Multifactorial (polygenic)
  • 4. Metaphase spread
  • 5. Normal Male 46 XY
  • 6. Normal Female 46 XX
  • 7. Down Syndrome Trisomy 21 47, XX, +21
  • 8. Chromosome abnormalities • Autosomal trisomies • Sex Chromosome abnormalities • Deletions / duplications / inversions / ring chromosomes • Translocations -Reciprocal -Robertsonian
  • 9. Translocations
  • 10. Down Syndrome Trisomy 21 47, XX, +21
  • 11. Nondisjunction Abnormal Meiosis Parents’ Cells Normal Meiosis Gametes (sex cells) Zygotes (Fertilized Cells) Trisomy 21 Monosomy 21
  • 12. Down’s Syndrome • 95% Trisomy 21 • 3% Translocation • 2% Mosaic
  • 13. Baby with Down’s Syndrome
  • 14. Hand / foot having Down’s Syndrome
  • 15. Eye with Down’s Syndrome
  • 16. Risk of Down’s Syndrome in relation to maternal age Maternal age at delivery Risk (live birth) All ages 1/650 20 1/1500 30 1/900 40 1/110 45 1/45

×