Genetics

Ad = one in two AR = one in 4

for down's = the risk based on the karyptype if translocation or disjunction

Real risk for next oregancy after dsjucntion the risk for next is 2%. In trnaslozation the risk in the next 50%. Most old is disjucntion so just 2%. For heart defects ⇒ need three generation pedigree chart, Based on the number of poeple affected and based on the epid data in the communities can determine risk.

eg phsizophrenia with pedigree chart need this. same for cleft palate or club foot.

emperic risk.

envrionmentally acquired genetic abnormality vs spina bifida

Option = just adopt or take the risk But other countries abortion makes it easier since go ahead and get regantn and can abort if defect and see -⇒ orenatal diagnosis and decisions ⇒ if rich can go abroad.

pedigree chart for dm, cycstic ulcers, cancers colon or breast cancers haemophilia ⇒ factor 8 low

Duchene muscular dsytrophy ⇒ CPK high ...and in medium high then carrier

thalassemia ⇒ screening tests and see carriers

propehssional genetic counsellors ⇒ genetists ⇒ calculation based on data base

(((slide on the screening tests for 4 diseases to see carrier status)

(will learn the above in obs)

genetic heterogeneity (one thing can occur due to many disorders like heart disease)

Cretinism ⇒ congentical athyrosos (poltgenic), iborn thryoid metalism error (autosmnal recessive) and then endemic goitre in the mother (environmental) Variable penetrance ⇒ tuberous sclerosis (becase even wirh that can have different levels of penetrance) can impact calculations the can ipact risk asseemnt and even then cant predict Delayed onset ⇒ huntingtons chorea ⇒ progressive cerebral degenartion =< comes after 50 years life so didficult.

(prenatal only if there is intervention possible otherwise cause misery unless can mentally prepare)

ethical aspects of genetic testing ⇒ only if there is a point in prevtnign and latering course ⇒ cant just say for mentally prepare as can be mentally down later on

\screening if only something can be doe about it

counselling means explaining and showing options and then ads and disads and leave it there. Advicing means pushing to one directions.

gleasons score

——————————- Notes made during lecture

genetic disorders and genetic counselling

dwarfism most dont survive pregnacy or early life

achondropalsai is the most common dwarfism that survives

Cerebral palsy

chromosomal abnormalatype = karyptype

genetic abnormalatiies = genetic studies

trisomies = non disjutnctions commonest cause = elderly but ransltcation or translocation

Autosomal or X linked

Patau most midline stuff

mentally backward

Xo/xx some cells xo and xx chromosomal lines different => so get mild phenotype => mosaicism mosciacism in downs as well

increased carring angle

SLIDE TEACHING FINAL YEAR PEADS OSCE

cri du chat => partial chromosome disorders Fragile x chromosome and different partial chromosal abnormalities

Single gene disorders vs chromosomal disorders (monosomy or trisomomy)

singe gene => memdelian disorders

sickle cell trait vs scikle cell anemia

Mother carriers and sons affected maiin linked recessive

duchenne muscular dystrophy

female homopholia => homozygous (haem father marries a carrier mother) or turners syndrome 3. mosaaicsm 4 lyonisation How x lined recessive manifestating in women

automsomal recessive PKU

GENETIC COUNSELLING

monogenics vs polygenics (multifactorial) eg: neural tube defect vs chromosomal Many of the congenitcal defects are polygenics multifactorial

Marfan's is single gene but can cause all sorts of deformations

Heart disease can be single gene (marfan),,, due to chomosomal (downs) but to polygenes (many congential malformations with enviornment effecrs) and then due to environment (like cogential rubella syndrome)

congentical malformation can be envrionmental or single gene or many gens ( alot are this) or chromosomal

IS it heredtary/familial or just one off mutation like thing?

chromosomal analysis of the parents of downs to see whether translocation or non idsjutnciton risk of non disjunction in subsequent stuff is 2% but in translation next baby 100%

prenatal diagnosis and then counselling and then prepare for baby

prenatal diagnosis and then going abroad

Abortion for only risk for mothers

beta thalssemia mediaterean anemia

high incidence for genetic disease => because of inbreeding amplifies it

recurrent abortion and still birth because genetic and chromosal abnoramlities

microcephaly with spastic cerebral palsy apgar 5 apgar 8 mild asphyxia at first minute birth aphsxia came to conclusion that microcephal and spastic cp with birth apshyxia good hpsital a nd this time foruth baby normal

aretaya yana leda => pshuzophrenia due to genetic so scared to give women marriage but not tb or leprosy