BIOL 311 Lecture Notes - Lecture 35: Advanced Maternal Age, Brca1, Oogenesis

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Published on 6 Dec 2017
Medical a n d Clin ic a l Ge n e tics No tes Th e S c ie n c e , Th e
People, a n d P e rs onalize d Me dic in e
- Ge ne tics: the s tudy of here dity and the varia tio n of inhe rited chara cteristics (0.1% differe nce
in ge nome betwee n 2 individua ls wha t makes you you)
- Me dical ge netics: The study of the etiology and pa thoge ne sis of dise a se s that a re at le as t
pa rtia lly ge ne tic in origin
- Clinica l gene tics: The dia gnos is , couns elling a nd ca re of individua ls a nd/or families with
inherited tera toge nic or spora dic ‘genetic’ disorders (eg. ca nce r)
- Chromosoma l a berra tions :
- Ane uploidie s
- Deletions /duplications
- Invers ions /ins e rtions
- Ring chromos ome s
- eg. Down syndrome (trisomy 21)
- Epice ntra l fold
- Low-se t e ars
- Monogenic dis orde r
- Point muta tions
- Subs titution
- Nonse ns e
- Deletions
- Duplica tions
- Expa ns ions (codon expa nds a nd ca use s disea se )
- eg. achondroplas ia
- Multifactorial disorder
- Influe nce of multiple ge nes and e nvironme ntal factors
- eg. diabe tes me llitus
- Impa ct of ge ne tic testing
- Ends dia gnostic odyss ey
- Invas ive te sting
- Delete s in dia gnos is
- Chas e false leads
- FLB: funny looking ba bies (ge netic)
- Focus on phe notype
- Ge ne tic couns ellors :
- M.Sc
- Fa mily couns elling
- Clinica l gene tics consult
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- Dia gnos is : prognos is -> ma nage me nt -> support
- First ste p: take fa mily his tory, do examinations/inves tigations , ge ne tic testing
- Dete rmine mode of inhe rita nce, recurre nce risk, reproductive options
- Autos oma l reces sive , recurrence risk is 1/4
- If cha nce that child is 100% ge tting dise as e, s ome people are risk a dverse , therefore
ha ve to cons ider other report options
- Take particular me as ureme nts to s ee if anything is off normal
- Clinica l gene tics referra l
- Infant with one or more birth defe cts , dysmorphic fe a tyres , or s uspe cted (se x)
chromos oma l disorder
- Ma jor conge nital a bnorma litie s at birth: 2-3%
- Re tronathia: ve ry little chin
- Long he ad (dolecoce tha ly)
- Child or a dult with dysmorphic features , deve lopme nta l de la y, inte lle ctua l disability, growth
is sue s, or his tory of birth defe cts
- Down s yndrome
- Obe se , hypotonic (low muscle growth): Pra der willis syndrome
- Stra ight eyebrows: one p3 de le tion
- Big he ad: s odo s yndrome
- Rhett s yndrome
- Ca t eye syndrome
- A corre ct diagnos is informs recurre nce risk
- Noona n syndrome : coloboma (iris doe sn't fully form), nipples far apart, curly hair, e ars
ma lrotated, cardiac de fe cts , recurre nce 0%, de novo in pare nts child wont ha ve kids
- Turne r s yndrome : recurrence risk 1-2%, not inhe rite d,
- Non ge netic phe nocopies
- Look like noonan syndrome , but mom dra nk he avily in pregna ncy
- flippe r baby
- Clubbed foot, bands on limbs (a mniotic ba nds fila me nts from amniotic sa c wrap
around orga ns ) as sociated with ge netic and non ge ne tic etiology
- Fa mily his tory of birth defe cts or inhe rited condition
- Pre na tal a bnormalities or abnorma l prenata l s cree n
- Couple s with infe rtility or multiple miscarriage s
- Proba n: pers on in family who firs t visits clinic
- Could be chromos oma l (un-inhe rite d)
- Infertility
- Look for deletions in ge nes re la ted to ooge ne sis or s permatoge ne sis
- Fa mily his tory of cance r
- Autos oma l dominant inhe rita nce
- Ea rly onse t
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