GENE TICS

Sthutuwu dawounOSOuAoih laueicaia

Daklu etaiuo Hod ik Sfquetwus (9uLed tu ucleua
a e Ta u oued la coudeisatiou o edaneudthu
Ceytauu' DNAP
Sthuctuwu ts
shont Sicod y wo pavalls idutical a
couethiti u Callud ehouch
cestuictim
CethomwR ud guw aa uanou

Loua (iwtolud ka ethou piuetodluo

Clmetids. emds o elnouochu aka Uomwu

semdius twu e au t u L coustHietieu

e ed cunowlcei e
Seconday aoisthietiou

kuowu a Saull
eNone oid
Segmect
0
Caeiiechou
Aeconodiujto sositio Cuthotmu
shont a 1 - p a j
MeaaitHic a u y - aHw
Cub- Meta cartyic Clostouidd
Moiocstmic elwca t o eu ud

To cutie .

t u
d

EAceondiy uuctievn

Auctodouas padig
mod a d XY yaul
Sex cuhouosouus
 wth it applicat
apcti
Toduiu4 oKayotypig
u clhnotuosoual patttom
Sohoti
Phocsduwu
-

01 studni
Do br asbrana
ehonouwosomus
oell ta
e s ,iu
oluueiq t
ho 33 is shontat
pawno-
au I is eugeet a p
dtu 1
wiel are dustd as -A
tw
Shhod
a ubiquity
auubiquity
ju
u e
e a
o sa
s

w w y sox tu cas e d un
udoj
L e clhan
exto(ha gi tala
xtolha a
t n uad 01 Jeualu e4nomosem
Gus in
t t
stuuehsaayd u Lemnal abojci
featuwu
ahoup Pau
loug aud Meaceutue
,2,3
4,S a i l l e Subutacutie
C 6-1a+ x eluhouosem Melitw igcd suhuutrcentie.

D -S Medliu sitd t Acrocetic

- s a l l i boly attaclud o uu
Cud o s h o s c t a m

16-18 fFaslyshont Culb nutacautic.

-90 Shot e Metaeeutie
Yclnonosem Vo9H shont Acouociutic wI H
31, 33
r o bodiu e- shonot anm

you typottusis
s t i n -tat ho oBau Lodun Is ou ae ftiau tu totl

x elsjombceuu lua eull

ho,
(h-t)mul shwu h is e.dx elosun
-Meo kuoon as

etivatiou oeewc iy canly aubhyduie li,

uuttuyfation.
: DNA
Mecthauism
 odyluoiyatd
Sohotie elle
hnomocol attaeked-to nuelea wubhaang
nehmad (xx) uuals
lle toticed lay Ba aud ecttna (1aua
uith ban bod
Cls cloremecin+ue
oithot Lasn boyelunouatin
No.oh omomo somus No.oeevoi Lod|
Condifien

XY Nonwad u
Xx Nohund Frmals
XxY Klimtue gudo
XXx 2 Tip x
eudyous
Xo Tunw d r o m i
Vauous Mod Lritrme ith eaupluh
Getic Dicohdne

Clemo sal S i u geu olisgndvre Multi aetosiad

dicodu M i llytua.
-AHouonyal uo Meudelial, dicondsns

Stn.elaaugr 1

Clnonuos ciuu

Sex-tiuled
Atacowna
Autoseunod uuoutna Pesáne
Deuiuat

X-li uked
lecscive o l a d s t iuhurim
x-liuked
Aeuniuad
ctosoual Deuiua
eftu
uethoguous
-
exprsd
tu
ic spasud So callrd u d i t a y y .
wsdtioi childbe
-ht a siug to ha
Thaunswrted cts aaut
Mcluohdsrop lasia
heaelw Colliu smdeul

Myotoule Dyetueuy
TlenLs Sliscosis

-Actoe.oual lectaue
.

-Rasul ouset axut o

Syuptoue
tu
sliugs aud vet hd auiliad.
auiliad.
THtafpana hld
Apeted Uuiduals
30
otw ridatioa

EPhuuylkotouusia
Mucspolyenecuoioo disoHds

Carstie rloeis
e s ull auemia

-liulsd Tuoutauea
X-lukad Doutuat
-Tnait aMctid alt passo all uis dauqlctus
witt al one beiug n09tuyad
asutusia med theotd tteu was b t
ualus
A au Casuoi

Vitaun d wis-fand úolcts.

Y-lituked |Holaudsie
Set o H-Y g u s |uba eu 7eoiomog@mu

HasuH uua
BaldeluE
fketid a l
aetd all uie Souc aud u t hie dauuldtss
H1 c u s ou 7-clMembcemA.
 X-liwkd uccssiue
Tit ale
Thoi e uolu Haoul
uas)
thousuited tecid mns tnou al
his daqluor
H e i seus
o
malf
Cothi atuual-uoMe
uly
wiseigu ocu
eulfo uis
ueettwr
sei
Y oluo nes
x Hasue i
Cof ew Bliudus
Dxuelesa Muceula Dctnojj
kulatid o
laus a ectd malu ar
T
a cCansins,
eacu otCuyttiwoua f2
Mubti aetonialuwitaue t exau
THait hat uuukt heun coubuoctiouLotaeth
geueic a well a hev-geutic
used s t h Muliaetotial
e d i t h Muliaetotúad
is altinuctiuely
lolygeue ukuitau Aieltto clui d s u t n
otaer bucaue it is eftly '.
elid0
esui syouunentnd aetone
aebperoti

foy en: kaigttetntwa AHI 2 thaits

Ltligeues q u o t asuAabu

Tefal iolgr eouut

Mallonnotioue
show
Couu o cougurt
Meultilaetrid liunu .

elttpalat
Clpt lip
Ceho57
Copditd distoeation
Corbary Heast tisoas
e Spua
Bida
-Aauaphay
Nownel
Delct sucl as
 Hcbhoudsroplasfq
Arctosomal deuluat disond
HeweMIpu s h o w e couou sheletal duoui ian
auo dis d
.tttuogt
O A Hsphi shot ctuwu
Ph9-ui uit lersleas
s t uead

sekoped &ct uasn bridge

lius shen
No dL a
Caie Fibhosis
Mot CeuueMHto~oual ELusiue Dicouoli
sLU Euseou as Hucaviseidosis kecaut uek UsLo
Llock cuusay
huucous esetiouc Hhat accmulotu
a d cnue ietios
ax prctauey abold 8S yus
Cdiical Feoctuus.Clouie luug iscau, hucusv poto
Iuectieu beig tu thuss
cauO o luma uad baek pusuu eu Higlt vetycl
Rs adnto aaydiae lrou
laucaeas aktld, uch Llookco
hetitít u a l u duuto loelen

Diagmoais ,

uatid lanle Sodiuw aud CLlnidae Suwea

Couaucun leloito y
Get:Csfic Fibyocie Tnausukudnau
CeFTP isF
is
TE
Hot duet cFTE.

Thie notaiu phadue

uoteiu 1nuoleaed eldoi- aus pestt
lan'
educiov -thoun all
uutm
ud u ciu
 UMni n
D
X- uiet
Iuked Do
ietut liektsi
t Disondt
Caused dQ fo enal deteet u fhoehati naabsesyhom
Cau . hickets
Hasmothilia
-Ituled ues ie Disodio
; Male
vo aletid aud kuals
lo,00onialu

wede f o
elnaua o cuunle qattn Heettd is hare, lathwj
Cau etuw
otlu alo d d fo Le
hmorkiluc a

Carvuwn ncuvluuliluli e

udviduals has dficiue lacto Uaui. leaoultc

1 ou l e

Clood dors ut c5t

not elst
dut-fo ohicl
gcS bleeds

asrttimifs ecaLe
Cluieal Mauisehie1_Cevru
hasuonueagcs oitiu jofus
swuun this disas
*eeVieta

Dukrmn Mus.clan Dysthopa

X- fiukd uusie disondsy
weakuuss
elasaaiid o phogtuaciut Musulan
Maund ati u c l Kéuutist
tuciduu Iiu 2500 malis

Muccula weakuus mariutug

Clwicalfratwru
=

dieulct elimalinguel
askusand
aic,
u abi lity to nn

Gouwrne gn
salke10d 3 ouths
dlay tu usmnng to dwuneu eaA.
ullan londosid
eeutnachu, kussinatoty ua e uasuly candiac
io heekou
 ahoe iS u m dneatint H'nast udtucaRd.
hmet, sevuMa
iatumut: No sueh heeiu Thcett, do
Diucujcetion " tiuau wA
Myo Llactd uylaurteci on
Cicki cel aui
lecensiue Disondus
.

htosoual

ansmi ttedo r hel

t oluu ott Paothes44
Casviius

CortHo lko
euly houougou dvidualg lon HLS
(H1S 41 o
iapaud 9otyp casou lyduiduals.

suletrtutiou ky Valu
eGlutauje acid
Digeae Causeo
by
t 6t positoy toli oludhu o HaeyeqloLYa
Mutaut hamoqlobiu moleeuls udohoes polfrsú qatou
twudu lous o/-tucion causiu dhaug e p
R e c e u icoucae fo sie ehal
Ladc to aueyia, Subiaqu splDug aly ewcakuus.
Rid ellstundto cluny|elwd Causug,Moutbeis
tuetieu iselhasiua

Cliical Mauituttious: h d o u n a palu

Suie iudretion
eytdenuse
Haddncu
Reral lalvu
Hant ldun
 MOUa
uad Ntuwtead Chyowocal-Hbua
Nwwrical nowocal-Hhuohovns
MHooSoalHbbutious chage tu eiHwr
(a

euomosomus. sthueBunal coepoulut

Dellhiou 0additien sepud u a
Sthuctunal elaug (HLaiou clnou10 o u ade-to
Clnauge wwbeo o eluhouoco
wdeal aulbeati ens.
acoS caui
Lt .
Uial
pouk t cosespti
Fxocudh cdiatiown pqa
uNeu- disjunctiou duriuq unaos
»StHuctual alobujatious
Delutiou: Gu-du-chat sudr@mt
Mierodaletiou: Phaday-uwi li sudromt
hauslo ccion lukia
Nuwiead albbasn ai ons
Aueuploidy Tisonuy (au+) Douu
Mouocody (an-i uusSmdsoni
"Sudsromu,
lolyplei dy Tai loidy:Aontioy
Tetnogloi Lotien
Mosaiesaud Cliuua

Mosaicism hopanty a t eiug coocod ulle

Ex Blocodll

celbs
X- chHouo
tepeef to
semu
uoCoue lu
a
oecel u witt
Tossussfwo eell poreulatieue', altetau X-achue .

aehve sfhsH toth

-clu Duoonnu

tuutis ciau
u t u hunerhnvdub , gouads
axa a ou

aud ovary ettns1

Haseyotyp shewe Mocaicisw wit xx/xy ell lint
Cimw1aRukus tormduidual hauiu ..ivd
an
0 n

dvive
tMoL

o
euically dihuet ull pepulachonë

Nactunly oeewi
b i s p d u i e c l i n e r a: 3tea "oo uticalty t st
p oms.

eilke ova's Bot11o

3 Cout

on dionie oliwna placeuta kt

acHogE
alle
2 Blood aho eum Exdange od q 4 1 o u

Juunas
e l u n w n a y

dirygotie toius leads -

olmonpicu aud Mutahen 1w

ouuod
Cpeemek
olpodesphisuy: altyatiou u DNA
popul ecren nucleohds

ssoeiaid s i t slgu
b a
eluwmonphism ma (SNP
uueleoiu polpdphisu
uous as suf-
pcihue D seqpanas
Va9YaH ou mwwben
0 i s o c a l + l t a uo UM
u i u í c D O t i an
Such as

epta1Sm
CauSe a dseass
aae uer aoueH
Geuetie jolyrujosughui Cavu
gbves as pldis e

.Mutetien o e DNA

Most li t Saus dikeabo

Lase chauge lu DNA Ceqmca

fat Mutahon: sug
eultysthiplet sodlL aud ccu ouplaei
aud

x Sicku eell amtuie

2) Fham elitr Mutaho: dlthou s tuCehiou

altyaien tu tuadg
ast uadcto
auud Hu autuo adid sag Lkd.
DN A efthane
 p 1 ) Seucce

Misseut
3 Nos-Sus

Fimeipte Guuie Corumelliy e

e i e Conelling: lhocess b e h patiits aud
Plaivs a wmakL awars \b -tta cou sequencu
autie disoholn, its +ndiecion
pstuuolued:
#ce diaguosis: tuvolues histey-pat P h u e t .
kutities Listoy9 aeily Thic hoyVaud
dtuiuagne
gothiove: paflogical, LWrenoual
ul ecios t o t eailn eovelUtieus, tuac cusene

liceas eardy Aiu hiou aud uoraetiou

1anuut
Itaeiue aspect Inenoctul oliaguosis aud Subscequeidt

towuiunctie
Foflouo up: vuciad tn gettie elnies , huls iu hvuty
hoceivuua in uuxf sthou t10 l rein ecteu
Sreeutn aud Y noduehiue l a u i

uCouuiheie t u s iaiiq -to daizr

l a r l y dlurd disnlun
2RLodhalu uaueuey tu ropdocto
has -thueatvdt
(3 Diso91den
sH ceueum
aud l e l i
alu
Cest yjetue
ttrieal ssa to he deaet eaulllu
aspects aud
ead
 toctaus Sudonevwd
1Som , isou"
t holution BH Klaus
Pottau (1aco)
8o, e l i l d u du u ut
Kayoty 44*+ 3 47 Xx +13
Cajsu nou-disjiuctio duniung quned oqeLIS
udunes: 1 fo,'ooo
Ghooth Hutdaio
Ciueal featuus
Sww ithal vasue tagwmthovM

slopi oulLad
HrtosBli ees (wi s

c l li elut pala
.Po dactt éxtna f-o)
0ila
Suall a
aulve losbha,dvleq med

figectious .evs
P-APPA.(1ughamey -Associ dud r[aua o i i u -
muto ceirtosis
E l u a n d Syud Hol
(1souy E , i s o

thoduchon: By bu dsand(11 60)

a Man 44x1+1o| 4A x +19
1

Cause : Nou- disjnehioy dw

ameto*uelss.
L, ei dunci:_1 6oo Dive bin
qs. eas mesty abosut
a d havdy eviuu baond 6uGndhs
 atwu laeial Jeehous lunb alonohumaldus

Mutd tutdochoy
Swal uad
eleuelud at aud ovoleP
Smal jus u d wo ucty
Cogeuufal heasrt diseabl
diaftiogn ccie hwnuia

taodlu Will Sxuduo

Kayot xy-+1S4xX+1S
eidtne: sooo cab
Cuical Fentuus: Viso l v
ogoudi cu guitrd kpoqlasia

N aiouo 2
nomdehapad ycs
tpephama ath cutHal ebesity,aldeuuus
dicoundod Loirt qeut Hie lcei n
Reduead l t s u c l t nass

Compared t» amily
ugtut

lwnu Smdio oul X

cluouroso wa aluonnali ty loss
-Nmwic
b vtus
500 fels
-Occwro u 11
Y5 x O.
-
Geuotpe:
i t absens b baast bod
feual
hemot web hed hwck
witi wehedreck
6 t a t u u wlHi
statwu
hoMt
Shont
C i u i c a l _ e a t u s

dust oith poiid wpsu loed 1d

shuld
 out roun Lo
Bitaial Cubitl valqus (lorseorua auud
Gou adal dsquui i t amenonhoea

Kliwutous Spmduo wt
wucal ahomnali. Du extua chronosouu du-fo
ho-disjuuchoy
oceus iu aso0 ual bort
e : 92, **Y uoith Loi bodH aa
heino Ma
Cuica Featuru Tau iuduiduo wth log ams e uas.

scauty oust hawn, absuuu axi ll couy

aud pudie kaiu

macouaxtng
agoepeut
tie,trtis, iutntils peus udseíde nodut
-Hyp poo as les

DousuSmdHod
huwucal olsouosoial abuoumality
Most cow
dseubd y laug oleu TDou (1836
Occu4 lu 1too birt .
31 (y4-xx+2 +9l) .
Gotpe Tisouy
3Sr
tcoueep tionaboue
isk eton: luye. iu Aof
dur

CLuical Fechus:Guovotallua aMutal retandatio

uuusdy, lond of u sic
elurdd iliots, voy
DecsccaLRd I It Yo
aud
sie
Small S(uilans uaan
Juigens
n a a l biidge
Inotudg torqt (tohkled
Bitocs, oideey spceduat foc nd tot.
Sual! 44
asalud p-lah
Conouas uatdissal
sk
 HeTCOM1 (ANATOMY
Codawoj- duad huuas booy uied tu seuthe o Madien as tahcla
Cadaue as

Oue a Seuion néf Uacl

a

Seconday schoof tudrut lo1oloTA

adwtcsiou Meclias coflege
who is
uertnlly puosudf eudt ot lout lo yeae Lano
CeMtg a
otoh (spteialined]|
dui e t hefueroual yca, suoliut wude -fo studt
4ou Lysioleoqy Vand 2i olu str
cony
har bee v i v d
as

O4ta , auotou
4
aud cuall wg

Hunwa CodavI
Lsleu t is unsut 10 au
eubaluud

ws is slooly aud Stadi buiug dicschd

HLal s l l Inctudi
aud sfuoud uespoMati d
ltaunnogk Omd paatiud
cddauon is Finst Tneluwn
Gloloa (ly acelamud,
autoY
also susa
Caolavo hef ouly tiacw Ghoss
olissauhon ectusR
ech
autouy qeubslpoloy o

Houto oltau CadauO

u e l a hud
tunclainsd daad baduu ulua
adu ulualy
aud wu
aT hust,
Eay hw olies
StHata
au faen hy
Doum fooH
Colle ( a t o u Depasrtn
ndoul upous Meolicas
lies
to eolls et booly
Leon tken H
auato

Leem dou,
il Postuntren Laa
eeen
olieschion g
epastmet
 -how last dscad oH So muny
penceuc nialuua sffo
dounth tuwn boduu
To
o . O u o ui s aMoctoun dyaihuus u e i s as a u s h

ia loeal
Derastuund cds lhotoquayus ttu voluaiwns oezida
H disectiou hal.I
Huseyatieu d Cadaves
Cadanu is put tu Supru osition ay falu dud itis
sLaved d eleahid Lya eubaduing.
oiRiu feu
- Dead beotius sfst t i i ' a u d dscayl
Lewns a s Auady'lpli wato
o t tuis
Sodut au tulalmd At fonwnlu wixtusu

s 0eaousru on euLaluing hku s uouns -to c e u r

Fis aso doue dead bedy eadax a thaus ud
o a a dis-tart lae hu eolutyalhood aud yeu
ViP b is+ Le uieiug Lelosu
k fopLie

Einbalua (-Ane s)
a-Apri laluing Caity enal eunin
pedssuie enlalf. Qeuy dee

podurnie nwbalin ctiou eutbal un

ie dous u a9da uve okruadud

has uot feacud
J

woer ulalnng aeo{ueA ua M skiu dauuagrol Ly

u o doucthons
ccideuts th geiu

uons uida iucids lod eavihu

asu heplausLyuubaluud
al t t ue o as)1 9aton oclas
 ubaliu wd 2 tbes pnit
eualin(u|},
*3ftu
1if Glyooi, Sodiu ollomiols e

pen
mardin Cids Haa
Gon lo ieueisios in
A t esed
tci d e i a ; eubmal
ieualig enona ax
lary cltd
aud c o u e

- Eubnluin Jeid pt m ebalui4 e l

ehuula udhoolueed
ula
aud caunu
Sundick s
iven-to feumouas artn
19uua suU
e umped uude 9o euude
9-5
id
p u u p r d iu
Cauwa s teod G ta x s puptd
as iched
Lasty, u aud lacuo

ubaluiuy E Eaies ucuall

Isakeu e l o c telatioe
Deisieu on, euholurig tend V
aud is
i e , o i l 4 % sau ekte
4oluu b s umk oill
aud
s etenA eouehion on rSca
doule Cur body on
dyasuhud andouyy

Disposal
CadavwMS
buyund m bwrjal
nd e
4hotend
asu
Cadav
Pemaine ancq0nay
ttackud dupt
Cadau dorfiuuus etactdr ia otusie Meaieiut
cuee daat hat fo e ltallisleed L
we, uigud
y a ba
o crfumorits g o a
 Cane on Cadawor
Codae has 4o be hauelled itt easi and huspe of
'Ouly pt beiun dissectd ic r t opa aud exposed 9
hLt is dbuented
lo s u d
Oven tr eelerd u u oual
lauk -to Le taleem u¥doy
eu Cadav Is

od twy weke nd
'H ug ull
o i t 3o
Caunes
yo wi y 11T
seeu ou.a paset ut L4ujevedA
f
dilulu Casoolo acid

a
Cadauven,

uin auatouy
hi
on shefakee Cau
18
lesers
Mamn u chtuioue e f a flun amatvay disee ction
t t a /hago fLank alu tuu
Ledy "asn
Cadaudia cat nduinis foad foo st y MesllcalLtuded
Who 1dr -fo ueuoy dirity aud by hity eH
maM madus au abol

Cadan au dluerus