Genetic Disorders Fac 2007

Pediatric genetic disorders Pediatrics PA-580 Fall 2007

http://www.nchpeg.org/index.asp

17 things healthcare professionals should know about genetics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

17 things healthcare professionals should know about genetics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

8 skills healthcare professionals should master ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

http://www.aafp.org/online/en/home/clinical/acf.html

What are the expectations of a PCP? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://www.aafp.org/online/en/home/clinical/acf/genomics/clinobj.html

Objectives ,[object Object],[object Object],[object Object],[object Object],[object Object]

http://content.nejm.org/cgi/reprint/351/22/2333.pdf

Pedigree ,[object Object],[object Object]

http://www.ama-assn.org/ama1/pub/upload/mm/464/family_insert02.pdf

Patient can create their own pedigree http://www.hhs.gov/familyhistory/

Take home forms 1 http://www.aafp.org/PreBuilt/acf_fammedhistory.pdf

Take home forms 2 http://www.aafp.org/PreBuilt/acf_diseasechecklist.pdf

Pedigree vs. Genogram ,[object Object],[object Object],[object Object]

SCREEN http://www.aafp.org/PreBuilt/acf_genomics_screen.pdf

Common pediatric genetic disorders ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Chromosomal abnormalities 2 ° to number ,[object Object],[object Object],[object Object],[object Object],http://search.marchofdimes.com/cgi-bin/MsmGo.exe?grab_id=657&page_id=8914176&query=trisomy&hiword=TRISOMIES+trisomy+

Chromosomal abnormalities 2 ° to number ,[object Object],[object Object],[object Object],[object Object],[object Object],http://search.marchofdimes.com/cgi-bin/MsmGo.exe?grab_id=657&page_id=8914176&query=trisomy&hiword=TRISOMIES+trisomy+

Trisomy ,[object Object],[object Object],[object Object],http://www.ds-health.com/trisomy.htm

Trisomy 13 & 18 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Trisomy 21 (Down syndrome ) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Trisomy 21 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Trisomy 21 facial features ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Trisomy 21 risk ,[object Object],[object Object],[object Object],[object Object]

Risk evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://www.webmd.com/hw/health_guide_atoz/aa78760.asp

Chromosomal abnormalities 2 ° to number ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Sex chromosome abnormalities ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Turner syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Turner syndrome Stratakis: Endocrinologist, Volume 15(1).January/February 2005.27-36

Turner syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Klinefelter syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Klinefelter syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://yalenewhavenhealth.org/library/healthguide/en-us/support/topic.asp?hwid=zm2596

Klinefelter syndrome ,[object Object],[object Object],[object Object]

Mendelian disorders ,[object Object],[object Object],[object Object],[object Object]

Mendelian disorders ,[object Object],[object Object],[object Object],http://ghr.nlm.nih.gov/ghr/picture/autoDominant

Autosomal dominant conditions ,[object Object],[object Object],[object Object],[object Object]

Autosomal dominant conditions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Marfan syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://www.marchofdimes.com/professionals/14332_1216.asp

Marfan syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],www.hughston.com/hha/a_12_2_4.htm

Marfan syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],www.mayoclinic.org/marfan/features.html

Mendelian disorders ,[object Object],[object Object],[object Object],[object Object],http://ghr.nlm.nih.gov/ghr/picture/autoRecessive

Autosomal recessive conditions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://www.marchofdimes.com/pnhec/4439_4136.asp

Autosomal recessive conditions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://www.marchofdimes.com/pnhec/4439_4136.asp

X-linked inheritance ,[object Object],[object Object],[object Object],[object Object]

X-linked inheritance ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Duchene Muscular Dystrophy ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Duchene Muscular Dystrophy ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],http://www.ninds.nih.gov/disorders/md/md.htm

So where does a PA go? http://www.nchpeg.org/

References ,[object Object],[object Object]

Genetic Disorders Fac 2007

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Genetic Disorders Fac 2007