Counselling for Single Gene Disorders PDF

Objectives 1. Interpret and differentiate between the various common inheritance patterns 2. Identify and compare factors that complicate interpretation of inheritance patterns 3. Recognize and explain the uses of a pedigree in diagnosing genetic conditions 4. Explain the impact of variatio...

Objectives 1. Interpret and differentiate between the various common inheritance patterns 2. Identify and compare factors that complicate interpretation of inheritance patterns 3. Recognize and explain the uses of a pedigree in diagnosing genetic conditions 4. Explain the impact of variation of genetic inheritance on perceptions of risk, phenotype, and implications for genetic counseling vs  physicianswonfordysmorphism clinicalinto key couns interpret signssymptoms dowewonatthe gene whatdoes thegene abtthe symptoms say counsellerfamily wee pedigree Yamin fruitflies shortgenerationtime  q isthereanaffectedparent ifyesautodom dotheyhaveaffectedparent yesdom anorec needtobe enough extensive notin sinneddom  disomy oneiarrieracnr otherkicked out affected parental if noeffectedparent 92istheresexeffect outreces yes linned Ylinned minnearee female carrier orfatheraffected mother carrier affect EE is unlesstheparent related chance recessive of in common population certainethnicities ifrecsibilingcouldbeeffected mothertoson 6  bicsome recessive not affected male cannot paymit ifhealthproblem relatedtochild isdom in all gen no canbenew ie an dominant germlinemutation now butnot reducedpenetrance likely inthiscase bic2affe epigenetics mosaicism variableexpressity canbenotexpressed nowtoknowif nanomosaicism Is parent  linneddom male likelytogetbreastcancer Breast, dx 20 Breast, dx 20 variable exponegenecan havemultiplesymptoms nonpenetrance Age 99 Breast, dx 20  Ovarian, dx 40 Ovarian, dx 20 Ovarian, dx 20  variable expressity Prostate, dx 19 youngage mostlikelynotdefinitive Breast, dx 20