CID

DowN SYNDROME /TRIsOMY21

Depina bion: disoder cstane
1s a gnekc
Douon Synalionme
Cbuon
due
ttue is an alkuahtn porgons phenone
a

rlta chwmaso me 2, Ca ng uelorg inetechud

disahiit dovelopmen fal dolays and phyi cal
delos. bovon Synalonme hawe 17
Inoli duualy h r
n tokal inokad 9
he usual
the uaual
ChDmosomes
A6 chwmoiches .

Inidence
Me st Lomnmon C wmosom l aknenimalily
-Cn foo-to ovlive kithg
o t e mask Conmmohgenehc lause G
)

intellecual dtsahilib

auses:
-t wauaily laud by an

Caued nenddiijunchn,
lmei 9 pa 7 ohw res
e n d i j unchon o fai
Seperale auuing ttue imahen o
Cglcluui hg meotes)
to o n e laugllas
1he t o l a pain ni l Jo
when a Spem o an e a wtr an a6neimal
numhu 9 chrvmosome whias mi a nema
ehds up mh
eag on spem Hie emb yo
 hnne copr'es q chrwmosome tnslod 9 t e
notmal'ho.
iv t e n in eey
Tne exlta Chromaone tepied
Cel u kabys bvdy.

7ypes(Cause:
. 7 Somy d
Aeounts 7s/ Oouon ynduome
hune are 3
cepr'e 9 Chwmotome 2 inalead 9
hwo
o tamAd by ab noimal cott liss'On d u i n g
t
dartgprmant t t i peunn c e he eÅ
Cell

.Mesaic'sm
-Acacunt e - 2 2 bouon noluone
-Nondsj wnehien ocens a t a lali stage 2
c2ll elirition, a{l erhiizak on,
-
Here Sone Cells hae heuma! T6
Lotile ome cels
chnmemeg
hawe 47 ChovmDgDhnes
ConH an rla a elh
omosonme)
3 oanolo cakon
-Account fen 3-47. q Doon noluome
-

Occns wtun pout chwmosohne l becomes

tached (heolocael) ento andhe
Chwmsome,
begvu o a onapkan
- vano lo cah'on a Ha dl comosome us u a l l

oecu n te 4Chromosome
 (3

Risk facoa:
. Advantingmalnal age
-olol
-
olodX e99s haue a qrealo AK
q prper
Chvmosome odiW'sion
Age 35 anol abo ve = /in 400 Gve bithh
-Age 40 ouncl above a lin lo lie hihs
hisths
Age
.taving one Chid wite,doon Synoluome has
a iik anofar doon stnoluome cluild

3. Being canens2 the anebc theanoloakon

Douon ynolnone
Mani fesakans 9 bown Sqnobome:
Head dae Cues
- Aoundad and Small u l
- Ihnen epi canthal folols, Specki ng on lais

CBnuhhield poa)
-Small nose, deprssed naal bidge
Smal eaus, chcit iina , onaluehe heang
loss
-

Potuding tongua, dlelayd teetr eryphon

CSmatl and mal aligineol,prohe to olental
Caries).
Ches, neck GKCaAS
bioao neak w t h
-
Shont,
Jib anomalies
Shoened Sib caae/2h
- Cong eni tal i a i olqeak

3. Atdoven Genifuli'a , Skih

- ppruslinq, lan, labby abdomen
heania
-pmhe to umhili cal
 C4
ih maus : small peni S, Cru4ptedhi disn, undes cenddad
les i cles
-
tn females: bulbaus rulva

3. Hhunols, heet
- Bovad, shou- hands n d Shuoby inges
- Incurued i l e inge and tahoveLAe palmau

Cease
-BDad sheik far and shubby toes, mde
and n toes
Space betrwean big
plantau ckease

Compkcaions: huodenale MeukalRetanadakon

ld to
Me
.Lasuming dic aki
likes
Reteuadakan
3. w Hr
4. Congenilal
heaut ditea sas ASD
- VSD

SRerpivcoy nech ans -Preumonia

6. Viion moblems- Catanack

7 Heauing logs
&. Gr p o blems - E sophageal Aeiq

- Duoclenal Atrcic
Celi ac oltseaae
-

hrschspmurg drseaae
1.
Tyvic dypurckons -hypoiuyridis
o. Leukennia

l. AttenLd immune unchoN

a. Demeniat
3. Slep Apne
 (
.0besi (
5. Skelelal prblems inS/abilily 9 / and 2hd coruical
vente ovae.
Diaq neske Tess:
oegnaut uwomen c a be SCeOna wih Hhe
i n v o u e diagneh c lah ng fe douon
epkon
nolonme, Sugaudles oge

1CheionscVlus Sampling (evs)

Ha
Sayole 3 placerta tekern eiHe thvugh
Ce ttvugh a needle inaeted muah

barwn 3-12 weck

-Pepenmad

. Amnéocon te S
- Rernoral g a Small moun mniOKc
heedle insekea n tue2
i d tneyd a

ao domon
- celsau unalyzd ster t e PMasanca
ChDmo Somal albneumalihes

-Teot satwean l - 2 0 LOt

eutoumed 2
Pegnoncy.

.PercutancoAA umbilical blovd SamplingABs):

a S m a l i stmdHe
-
needle wsed to Aelii ee
Hu
umhilical tad, leeally
blord rom
d ali 20wk

. Kasyo Hp"L
- bne ajla baly o ben 4 eon dydume
upeced
Blovd fískue gaple. sfaineo to
to Stuo
Shuo
C mosonneGouyaeo by a , nuuau and
 an be peyvmed fo Contm tu diagnor
Shape
O t t o n ynduome

7atment:
-

Farly inlavenben makes detzenence

Dron Syndome cannot be cummel

Easly inesvenbon involuts tuopiI3 and

Speal eolucars whoce goul ' to help He
indivdlual develop mor stills, lanýuag.
Soctal SkALS ano e help skit.
Sungeu'es to LerecE ai anal c a u d i a
nmely
ano malkes
Scheening and Reatrneut S o n on a n a

injees ons
 EDWARD sYNDROMEl
TRISOMY /8
Depinikon:
a reic disodes CawbLa by He pmesence
exo
l l e paut 9
an
cepyg te tth

Chomosome.

Incidenc:
-9E t e Second mask Lommon auhosomal
Buspny a l Doon Syrduore.
- Occns n r ound one in booo lve kisths
Arpund So;, e o t o a e emale.
i H Hu Synolione olre
-
Majeuty 2tnses
-
hepere o t h
IncelenCe inc iH ineueas2 q Motheus ge

Couse
not hhesale )o hrn

as arandlom erts durr

I OCCus
and pein
umabon g g9S
nondi sjunchon
hich Jesutts in
Tue lauwae io numbes
abhorma
an
hepnoluchive celf nmth
a

Ch mosomos,

Chamcteuskes Ausand Syndrome

- Minocephaly
bcciput
p anced
by a
omi nent

- lew -ceF, a l t o r n e d e o n

MCAOgnatlu ac

clyt lp e
cle palalz
 (8)
-uyptuned nose

namow yeled folds (palpobval unes

(oculau hypeatoloram
idoly paced s
-pfo s

- shot bruas bohe

- clenchwd hands
- Chotod plexuo Cysts
huumbs and najls
- tunodes dvelopea
hadius, webking 2 second t
ab ten
t u d oes
-

dubkro-a Rocke bottom ect

-ln males: undescended ahs

Signs ard Symptoms

-iclney maltematins Cheuashoe dhey,_
ydidhephedrs, priy e Litio (USD,
Sluctinal h l a t tpecki at birtt
vSD,
As D, PDA)
Omphaloale
alte si a
-bsephageal
- Menkal Retanolahion
Develep menl/ dolays
- C o t descreney
-
hes
Fraoltn9 distrl bes
Buuatiing diiceulhes
ypers
(a muscle disoku trat
canaes muultiple josnE conia Ctuses ag

botth).
Diagneshe Tesks
natal Axanmi nabon
Reveals unwaually lauge uleius,
ex lta amniok c lui d
Reweals Smau placenter
a.Trpe Sceen
Atpha ekamopin lavels (aFo)
) Hunna hoionrc gonadokmn'n avels
Esrot lavels
s th
these may be peremed hohwen tne
and 7 week
an touna o be qhiscan tly lowee
7mey
in Ecduvand noluome.

3 Uheoonogop
a) fiost mmeste - nuehal vanslucencu

/ nany asotalee plaanma

olans
u e b-hed

-Yewuot Jekanolaaon, potyhydluamnids

Shaush B A y - Shaped c a n i u m and

brachyaphaly may be observed

H. Amneoonteis
/eyeumd a t 75-18 Lo Rs ey

and usedo pnenatal dgnoris 9

triso my I8.
 lo)
5 Cheionic (lus Samplang Hu
o-/2 eks eqli
P ed at

lavae mens huaal od

pei
- Atlouos eanlia oliagno sS

TreabmenbG:
Cannot he cenea
Cae
Troearnent io tthat q pallave
hutvhonal s u p e t
ansfusions for low blood æll tounts
Such as di ue i s
mel: cakons
oligexin to manage heaut a i u A

,
 (n)

PATAV SNDRomE TRLSOmy 13

Depnikon:
9 a a naso, seioud ncic disoidel tauned by
hai ng an addihonel ePy 2 ChD masome /3 en
So me d al e bvelys cole

Ineidence:
KCE abo- I tn 12,000 tve hisths
Mote tnan s0 nanG i t h 4 f a u Syndome
die within te irs yean q e .

Cause:
-ln Pafau synoliome , ttu ells have tie ceies

Chv hmo aome /3 inslead

b
te houmal twbo
due to nondisjunchon oduing meios
- Éxtra mateual ronm /3h chre mo Some may

transloala to anofte Chromosone mosaicism)

as ol
Bcu
-
Most Cases me not inheufed, but
tne teum ah ern
Andom eent dudnG
9ametes.

Manifeshakons and physicol indig:

. Mental and mot disalilihes
2.Menocephaly , eL a less vunaled 6oncn esulhng
Ln moe g an 19 -Shafped tull.

3.
Eye Stnuchue deyeclz..
- Minoph thalnuia ot no eyc4

-
Crogs ed eyes (ho t o1 ]u one
ee)
- Catanacts
 C1a)
tuitehing q
tunfchuhg h
dcnscy nys/ngn1us (invm luntany
Sense
y) neAue hypop lania
Oph'c (
. Meustulai and Stin rob loms:
- poiydacty Y j

- low -set eans

- Roceer oDtomeef
Siu'arn ene palm p aten
- Cly- p a l a l

ngus
Ove humb
bvlatping 3 he

5.0hens
- Omphalo tele
-

S Leep apn
O mLtCal heinta
- Clenched and goed hands

Scalp dleeoks

Managemenb
-Mo Cue
abnemalibes
Suguies to x
- Tutse eeolirgs
-
Occupakohal, phyai cal
and pecch tteiapy
 TURNER SyNDROME
DefiniHon:
9 a uneic condition ttrat ae els ony
wlene teeemale hao ony ore *
emales ,

One s ex
chopmosorne abheumauy
Chvmosomes (xo).

Ineidence
Ocuns in len 400o lbve emale hishg

women
mHa Taune Syncdnme
let inheuilio a s
naue elu d n
as usually Skuile and Cannot

Advancad nmakinal agc io n o asOU'aRI

han : niLasLA nciden ce

Cause:
9 E o ypically caused oy hondiijunchon
A pau a SeK chwmoSomas dtailo to sepanala

duing
duning TEe tmabon g an
glei spem), So
t e n an
ab hemal eag wwilatwit 'a nem
an embryohat embyHo
Spem to fem ie ex
misiy one 2 s
may end p
chDmOsDmes

pes:
.Classi Cal luun ynolno me
one X
In claal cal uune Syndome
Covosohne Gens4ERy onplekely mifsng

un a l Hne cel
 Mo saidSY lune bynoluome in
-iu x chwmoso me w nmítting Ony
So me Hhe cwells
wil have
-U6ually 9rts i t mosatcísm
lete ympoms
3Ychmosome maleial Hre
-

Some cels e s l haue one

pI 3
Ch wmosome and ohens uill hawe one

heX chomaDne and some Y

Copy
coP g
Ch mospMe maeuid

he i n d i d u a l
iu dovelep hietog'cally

Ychwmowme
'maatal
Tine enC tnoina
pueAence g
Hhe "inalivdual a t te aR
ll pus C a n c calle0

7 deidepirng a pe
enadoblastoma.

Chavaehe istes:
-debbd rak
lo paeuer haih2
W ida -9o acad nip les
Edoma 9 hands and feet

Aman oahea
Ab sen secondaky Sex Chaacteuskcs

Stei ik
-/ceptual and social
skill dficulties
 (152

Symphoms: ano
seXUY

.Turne ynolomme ameclz aoroh ha

h an
u
shole
au
dovelepmant dksedu whan
vith bss sat pcberty
Cuids to
-

a n d may
fail
nenad,
uy Shouk
Ovmies fail to
dovelep ropealy
tw haue
uit Taune ynolw m2 eppea
.women

- a Stvcky aPpeouaL abuw

at t a
a u m s Hhat
tun e t suighty

-a Aecding
lewa jau
nak
- Shoa webbe heck
da
haiuliho aB l a back
loo
tom! i n c l u d e
yrp
3 Otcer medical hands and t )
-umphedarna (tuelrg
kdnu e c G

- heo- l

- higu blovd ptesuue

-tnjeshi
Diaqnasis
AmnioConteis
a. Chovonic Vitlus Sanplirg
3. Vitraoonogiop4
. kanyotypeng io done ro tonhm te draqnosS
.Raotyp
Manaqement:
tervriene best oy
eplacement Henapy d e beLny
 L162
> Gmuth houmone r to mwmota povuorh
Pnoluo gens loo doses i n
to pomote hejg
-

to encounage neumal han qDuoth

- o pomota noumal muscle qmH
neumal sEKual
kstrgpn to omote
development
 KuNE FELTER'S NDRO ME
Defi nition:
9 a
genokc disoudeA
hat Quly aecl
heet

males . I öccns when a boy o be mth the

exua X chwmasrvaS,ti ch tausas a boq
than a noma!
to v d uce
less astaskerpna
haia ze
in nusucl phyrcal
bry, sesulfirp
males

Ineidence 1:S0o to 1:100o

- Occs in7Duguiy oloou
li ve male b n s

Cause: becoausa
1he exra chomo6orne i afaine 9
nond u n c k n event duiig
eioas
meio ps

OMeos3 unch'on ecens then homologpug

-
nondlsj a n o rooluuceg
uno roouces
Chwmosomes ait tocepeude
hDmosdnne
an X and a Y
a noimal X m eA,
Ohen tio terhUs
an Xx Y
E vduces

Meiosfs
Occuns uhen S chomaß'ds
-
Nonodsjwnch'on
sex chmmosome ,in tuo ase an xr
On thd
On
fo apanale
and an X ail
io moluwd uwck,
vten ahyed
An AX @g
i t h a y spum e l d s X*Y KYing
 (18)

Siqms Syphoms:
Klnajella Shndhome
Segpns and
Symptoms
vaH mth age

Babes
weak Muscle3
Sto Mo fou davelepment taking longu than
avuag. to E up, craut and walk

- spoech delayH

-Yuet, clocte. peLsonalty

- probloms a t batla, Sudh as letiles t h a
havent desondecd tnlo Hu Sao tam

oysand eenagers:
Tallen tan avenaz Shatune
- longuu legs, Shoula tou0 and baocdes hips
Compod i t e othe bDys
Hosent,dalayed e tncomplel pulaay
ulas bolies and laag
Hzlin pruberlg less
mus
6ttan
kacial and body hai onpand wta

laens
Sma Am aides

SmalL Aeni S

ynecomash'a

C I eak hones
low eneigy lauels

-Shynwss

Ditpi c pAcasn9 ealigs Socta'z9

Pro bloms ilh Jacdali ng, t w i h9, tedli ng
OLmath

AHeni' on robenmg
 (/9
3.Men
- weak bones
and bicly hais
-
deroaeed facial
u a a e tksue
- enlanged ana al
- deenoaeo Sex dlsive sexu

l o lems
- cneaiLy

-
Sma lEhicles ano penis
stakue
katle than aweage

Diaqnosis: A
e kealest chances to mate klnje/ters

agnosing e in te jotlomng tmes f e

befere e Sheuty ala beatt
easly ctidhod
.
aollesconce
- aolulthord

O Bland Test
karyphpe and o t u sandaud
-
Blod lost aalled
diagnaske metd
ChvmoDmeg
a a paLsong
n l a s lopts

Penatal Teab
- Amniocon l t s
-Cheuonic V l u s sanypltng

o o ut
O. CaAes Ae
ond by PAenafc!

diagnos'S in adalthovd
lata
diagnoss
receie
&5Y
 (30)

Treabment
. Testos terone -

neumauzes body povpehng

Dme lõs deelop ment g heimal
Seconday sex hanacteleshcs
oal- lujebuy and
does no
mecomasha

Sungeky o unecomaska
-

posuckon
Suugr cal excGon
keastE H'KUR

technology io waed fo
3. tn Vitro JerkGyakon
-

garnoue speim maeuao

Mmenm t i Kliajelke

.'