MZ&ADELTut

ori
alAnswer
s

BI
O540Cy
togenet
ics

Tut
ori
alQuest
ions2019/
2020Sessi
on

Quest
ionsandanswer
s

Wor
kdoneby

MUHAMMEDZI
AULHAQI
DRI
SANDTAJUDEEENABDULLAHADELEKE

I
nst
ruct
ion:Answert
woquest
ionsonl
y.Chooset
woquest
ionst
hatcor
respondt
o

t
hel
astt
wodi
git
sofy
ourr
egi
str
ati
onnumber

1.(
a)Whatar
etheessent
ial
par
tsofachr
omosome?

(
b)Descr
ibechr
omosomesbasedoncent
romer
eposi
ti
on.

(
c)Di
sti
ngui
shbet
weenamni
ocent
esi
sandchor
ioni
cvi
ll
ussampl
ing

2.(
a)Def
inekar
yot
ypeandst
atei
tsuses.

(
b)Di
sti
ngui
shbet
weenasy
mmet
ri
candasy
mmet
ri
ckar
yot
ype.

(
c)Def
inechr
omosomalmosai
cism andst
atei
tscl
ini
calconsequenci
es.

3.(
a)Di
sti
ngui
shbet
weenpol
ypl
oidandaneupl
oidyandexpl
ainhowt
hey

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ar
ise.

(
b)Wr
it
ebr
ief
lyont
hef
oll
owi
ng:

i
.Aut
otet
rapl
oidyi
i.Al
lopol
ypl
oidyi
ii
.Par
thenogenesi
s

(
c)Whoi
samosai
c?Expl
ainwhatdet
ermi
net
hesev
eri
tyofsy
mpt
omsof

mosai
c.

4.(
a)Def
inei
nver
sion,
dist
ingui
shi
tst
wot
ypesandexpl
ainwhatdet
ermi
nes

t
hedegr
eet
owhi
chheal
thi
saf
fect
edwheni
toccur
s.

(
b)Def
inedel
eti
onandexpl
ainwhatdet
ermi
nest
hedegr
eet
owhi
chheal
thi
s

af
fect
edwheni
toccur
s.

(
c)Def
inet
hecauseandsy
mpt
omsofDownsy
ndr
ome.

5.(
a)Def
inecanceranddi
sti
ngui
shbet
weeni
nher
it
edandspor
adi
ccancer
.

(
b)Li
stf
ivechar
act
eri
sti
csofcancercel
ls.

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(
c)Expl
ainwhysomepeopl
ear
emor
esuscept
ibl
etocancert
hanot
her
s.

6.(
a)Di
sti
ngui
shbet
weeni
sochr
omosomesandr
ingchr
omosomesandexpl
ain

howt
heyar
efor
med.

(
b)Def
inechr
omosomeshor
thandandexpl
aint
hef
oll
owi
ng:

i
.47,
XXYdel
(7p)

i
i.46XYt
(10:
11)(
p21.
3;q32)
.

(
c)Descr
ibet
hesi
gnsandsy
mpt
omsofKl
inef
elt
ersy
ndr
ome

7.a)Di
sti
ngui
shbet
weenAmni
ocent
esi
sandchor
ioni
cvi
ll
ussampl
ing

a)Whati
sakar
yot
ype,
dist
ingui
shi
tst
wot
ypesandst
atet
heusesof

kar
yot
ypes.

b)Descr
ibeKl
inef
elt
ersy
ndr
ome

8.a)Whati
samosai
candexpl
ainhowt
hecondi
ti
onar
ises

b)Expl
aint
hef
act
orst
hatdet
ermi
net
hesev
eri
tyofmosai
cism

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c)Expl
ainPat
ausy
ndr
ome

9.a)Di
sti
ngui
shbet
weenpol
ypl
oidyandaneupl
oidy

b)Whati
schr
omosomalnon-
disj
unct
ion?

c)St
atet
heTur
nersy
ndr
ome

10.
a)Expl
ainuni
par
ent
aldi
somyandexpl
ainhowi
tar
ises

b)Di
sti
ngui
shbet
weenapar
acent
ri
cinv
ersi
onandaper
icent
ri
cinv
ersi
on

c)Descr
ibeJacobssy
ndr
ome

Q1a.

Whatar
etheessent
ialpar
tsofachr
omosome?

1.
  Chr
omat
ids,
Chr
omonemaandChr
omomer
es 

2.Pel
l
icl
eandMat
ri
x 

3.
 Tel
omer
e.

4.
 Secondar
yConst
ri
cti
on

5.
 Sat
ell
i
te

6.Cent
romer
es

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1Banswer

Theregi
onont hechromosomewher ethespi
ndl
efi
bersbi
ndduri
ngt
heprocessofcel
l
cycl
eiscall
edacentromere.
 Dependi
ngontheposi
ti
onofcent
romer
e,chr
omosomes
canbeclassi
fi
edintofourt
ypes:

Metacent
ri
cchr
omosome:Thecent
romer
eispr
esentatt
hecent
reandt
husdi
vi
dest
he
chr
omosomeintot
woequalar
ms.

Sub-metacent
ri
cchr
omosome: Thecentr
omereispr
esentsl
i
ght
lyawayfrom t
hecent
re
ofachromosomeornearert
ooneendoft hechr
omosome.Asaresul
t,chromosomei
s
di
videdint
ooneshor
terandonelongerar
m.

Acr
ocent
ri
cchromosome:Thecent
romer
eispr
esentv
erycosetooneendoft
he
chr
omosome.Thus,
itf
ormsoneextr
emel
yshor
tandoneverylongar
m.

Telocentr
icChr
omosome:ort
ermi
nal
chromosome:Thecent
romerei
spresentatt
he
ter
mi nal
endofthechr
omosomeandt
hus,chr
omosomeappearstohaveasingl
earm.

1c.An 
amniocentesi
s i
saprenatalt
estt
hatcandi
agnosegeneti
cdisor
ders(suchas
Downsyndromeandspi nabif
ida)andot
herheal
thi
ssuesduri
ngpregnancy.Aprovi
der
usesaneedletoremoveasmal lamountofamni
oti
cflui
dfr
om insi
detheuterus,
and
thenal
abteststhesample

WHI
LE

Chori
oni
cvill
ussampl
ing (CVS),or
 chor
ioni
cv i
l
lusbi
opsy,i
sapr enatal
 
test
 t
hat
i
nvolv
estakinga 
sample ofti
ssuefrom t
heplacent
ato 
test
 forchromosomal
abnor
malit
iesandcer
tainothergeneti
cproblems.

DI
FFERENCE AMNI
OCENTESI
S CVS

Pr
ocedur
e Amniot
icf
lui
disr
emov
ed CVSisremovedbycat
het
er
usi
nganeedle (TC)orneedl
e(TA)

Ti
ming 20thweek
16- 20thweek
10-

Fet
alMal
for
mri
sk Non 1:
3000vascul
arl
i
mb
malf
ormati
on

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Pr
egnancyLoss 0.
5-1% 2-
3%

Ti
meRequiredFor 2-
3weeks 1WEEK
Cyt
ogenesi
sDiagnosi
s

Ri
sk Lesst
han1%t endencyt
o Ri
skofpl
acent
amosai
cism
haveamiscar
riage

Q2a.Kar
yot
ype 
isat
estt
oident
if
yandeval
uat
ethesi
ze,
shape,
andnumberof
chr
omosomesinasampl
eofbodycel
ls.

USESOFKARYOTYPE

Karyot
ypi
ngcanbeusedtodet
ectavar
iet
yofgenet
icdi
sor
ders.Forexampl
e,awoman
whohasprematur
eovari
anfai
l
uremayhaveachromosomaldefectt
hatkar
yot
ypi
ng
candet
ect
.

Thetesti
sal
sousef
ulforident
if
yingt
hePhiladel
phiachr
omosome.Havi
ngt his
chr
omosomecansignal 
chroni
cmy el
ogenousleukemia(CML)Asl
owlyprogressi
ngand
uncommont
ypeofbl
ood-
cel
lcancert
hatbegi
nsi
nthebonemar
row.

Q2b.

SYMMETRI
CKARYOTYPE ASYMMETRI
CKARYOTYPE

Cov
erssmal
ldi
ff
erences. Cov
ersl
argerdi
ff
erences.

Metacent
ri
cchr
omosomesar
e Acr
ocent
ri
cchr
omosomesar
e
pr
esent. pr
esent
.

I
tist
hesamesi
ze. I
tdi
ff
ersi
nsi
ze.

Thecent
romer
eposi
ti
onsar
e
I
thast
hemedi
ancent
romer
e.
di
ff
erent
.

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Lessscopeofv
ari
ati
on. Theyhav
emor
escopef
orv
ari
ati
on.

2c.

Chromosomal mosaici
sm i
sdefinedasthepresenceoft woormor
echr omosomall
y
dist
inctcel
ll
ineswit
hinanindi
vi
dual.Ati
tscore, chr
omosomalmosai
cism isthef
ail
ureof
chromosomest oproper
lysegr
egateduri
ngmi tosis,l
eadi
ngtot
hegai
norl ossofwhole
chromosomes, aphenomenonknownasaneupl oidy
.

3ai
.Aneupl
oidyi
sachr
omosomal
mut
ati
oni
nwhi
cht
her
eisoneormor
eext
rachr
omosomes,
oroneormor efewerchromosomes.I nhumans,thegeneti
cdisor
der
sDownsy ndromeand
Turner'
ssyndromeareexampl esofaneupl
oidy
.Indi
vidual
swithDownsyndr
omehav ethree
copiesofchromosome21, sothei
rgenomescontai
n47chr omosomesrat
herthantheusual46.
Indi
vidual
swithTurnersyndromehav eonl
yonesexchr omosome,whi
chistheX-chr
omosome,
sotheirgenomescontain45chr omosomes.

i
i.Polypl
oidyisachromosomal mutati
oninwhichacel lhasentireextrasetsof
chromosomes.I nst
eadofbei ngdipl
oid,i
nwhichthecel lcontai
nstwoset sof
chromosomes, i
tmaybet r
ipl
oid(threeset
sofchr omosomes) ,
ortetrapl
oid( f
oursets
ofchromosomes) .Poly
ploidyiscommoni nplants,andpl antgr
ower smayexpl oitt
his
factt
opr oduceplant
swi t
hf l
owershav i
ngdoublepetals.Polyploi
dyisgener al
lyl
ethali
n
animals.

3B.

i
.Autotet
rapl
oidyi
sanextr
emelyrar
echromosomalanomaly
, pol
ypl
oidy
,whenan
aff
ectedi
ndivi
dualhasf
ourcopi
esofeach 
chromosome,i
nsteadoftwo,resul
ti
ngi
n
tot
alof92chromosomesineach 
cell
.

i
.All
opolypl
oidyoccur
swhent wocl oselyr el
atedspeciesmateandpr oduceahy br
id
containi
ngchromosomeset sfrom bothpar entspecies.Theresulti
nghy bri
disusuall
y
steri
l
ebecauset hechromosomesf rom eachspeci escannotpai rcorrectl
yduri
ng
meiosis.Thetwodiff
erentspeciesinv
olv edmayal socontri
butedifferentnumbersof
chromosomeswhi chagainpreventschr omosomepai ri
ngduringmei osis,r
enderi
ngthe
hybri
dst er
il
e.

i
ii
.Part
henogenesi
s isafor
m ofr
epr
oduct
ioni
nwhi
chaneggcandev
elopi
ntoanembr
yo
wi
thoutbei
ngfert
il
izedbyasperm

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.
3c.Mosai
cism i
swhena 
per
son 
has2ormor
egenet
ical
l
ydi
ff
erentset
sofcel
l
sint
hei
rbody

I
rr
egul
archr
omosomecopi
eschangethegenet
icmakeupofababy
,
ul
ti
matel
yaf
fect
ingt
hei
rment
alandphysi
caldevel
opment
.

Peopl
ewi
thDownsy
ndr
omet
ypi
cal
l
yhav
e:

 sl
owerspeech

 l
owerI
Q

 af
lat
tenedf
ace

 smal
lear
s

 shor
terhei
ght

 ey
est
hatt
endt
osl
antup

 whi
tespot
sont
hei
ri
soft
heey
e

4A.
An 
inv
ersi
on 
i
sa 
chr
omosomer
ear
rangement
 i
nwhi
chasegmentofachr
omosomei
s
r
ever
sedendtoend.Ani
nver
sionoccur
swhenasi
ngl
echr
omosomeunder
goesbr
eakageand
r
earr
angementwi
thi
nit
sel
f.
Ty
pesOfI
nver
sions
i
. Paracent
ri
c:Par
acent
ri
cinv
ersi
onsdonoti
ncl
udet
he 
cent
romer
e andbot
hbr
eaksoccuri
n
onearm oft
hechromosome.
i
i. Per
icent
ri
c:I
nver
sionsi
ncl
udet
hecent
romer
eandt
her
eisabr
eakpoi
nti
neachar
m.

Eff
ectsofInversion:I
nversionsusuallydonotcauseanyabnor mal i
ti
esincarri
ersas
l
ongast herearrangementi sbalancedwi t
hnoext raormi ssi
ngDNA.Howev er,i
n
i
ndivi
dualswhichar e 
heterozygous f
orani nversion,ther
ei sanincreasedproductionof
abnormal 
chromat i
ds (
thisoccurswhencr ossing-overoccurswithinthespanoft he
i
nversi
on).Thisleadstolower edfert
il
ityduet opr oducti
onofunbal ancedgamet es.An
i
nversi
ondoesnoti nv
olveal ossofgenet i
cinformat ion,butsi
mpl yrearr
angesthel i
near
genesequence.

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4b.Del
etion i
sat y
peofmut ati
oni nvolvi
ngthelossofgenet i
cmat eri
al.I
tcanbesmal l,i
nvol
ving
asingl
emi ssi
ngDNAbasepai r
, orlarge,i
nvolvi
ngapi eceofachromosome.Del et
ionreal
ly
meansthatsomet hingismi ssi
ng.Andasagenet i
cisttal
ki
ngaboutdel eti
onitmeans
somethi
ngi smi ssingofthegenet icmat eri
al.Anditcanbesomet hingsmal l
,justabasepair;
it
canbesomet hingl arger
;itcanbepar tofagene; i
tcanbeev enlarger;i
tcanbeanent ir
egene;
oryetl
argeragai n,i
tcanbepar toft hechromosome

Degr
eet
oWhi
chHeal
thI
sAf
fect
edWhenI
tOccur
s.

Di
fferentdel
etionscanleadtodiff
erentfi
ndings,andtheycanaf
fectjustbehavior
;t heycan
af
fecthowachi l
d,howaper sonlooks;t
heycanaf fectaver
ysevereproblem t
hatt hechildmay
di
eatbi rt
h;ortheycanaffectsomethingthatjusthastodowit
hey ecolor,hai
rcolor ,
with
weightorheightoftheperson.

Whenpar tsofchr omosomesaremissing,anumberofsyndromescanoccur .Thesesy

ndromes
ar
ecal l
edchr omosomaldeleti
onsyndromes.Theytendtocausebi
rthdefectsand l
imi
ted
i
ntel
lectualdevelopment 
andphysi
caldevelopment
.Insomecases,defectscanbesevereand
af
fectedchildrendieduri
nginf
ancyorchil
dhood.

Ther
ear
emanychr
omosomaldel
eti
onsy
ndr
omes,
whi
chi
ncl
ude

 Cr
i-
du-
chatsy
ndr
ome
 Pr
ader
-Wi
l
lisy
ndr
ome
 Wol
f-
Hir
schhor
nsy
ndr
ome

4c.Downsyndromeisagenet
icdisor
dercausedwhenabnor
mal cel
ldiv
isi
onresul
tsi
n
anextr
aful
lorpart
ial
copyofchromosome21.Thisext
ragenet
icmat er
ial
causesthe
devel
opmental
changesandphysical
feat
uresofDownsyndr
ome.

CAUSESOFDOWNSYNDROME

Humancel
l
snormall
ycontai
n23pairsofchr
omosomes.Onechr
omosomei
neachpai
r
comesf
rom y
ourf
ather
,theotherf
rom y
ourmot
her.

Downsy ndromeresult
swhenabnor malcell
divi
sioninvolvi
ngchromosome21occur
s.
Thesecelldiv
isi
onabnormal i
ti
esresul
tinanextrapar t
ialorful
lchr
omosome21.Thi
s
extr
ageneticmateri
ali
sr esponsi
bleforthecharact
eristi
cfeatur
esanddevel
opment
al
probl
emsofDownsy ndrome.Anyoneoft hr
eegeneticv ari
ati
onscancauseDown
syndrome:

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 Tri
somy21.  
About95per centoft
hetime,Downsyndr
omei scausedbytr
isomy
21—t heper
sonhasthreecopiesofchromosome21,inst
eadoftheusualtwo
copies,i
nallcel
l
s.Thisi
scausedbyabnor malcel
ldi
vi
sionduri
ngthe
developmentofthesperm cell
ortheeggcell
.

 MosaicDownsyndr
ome. I
nthi
srarefor
m ofDownsyndr
ome, apersonhasonly
somecell
swit
hanextracopyofchr
omosome21.Thismosaicofnor maland
abnor
malcel
lsi
scausedbyabnormalcell
div
isi
onaf
terf
ert
il
izat
ion.

 Translocat
ionDownsy ndrome. 
Downsy ndromecanal sooccurwhenapor t
ion
ofchromosome21becomesat tached(transl
ocated)ontoanot
herchromosome,
beforeoratconcepti
on.Thesechil
drenhav et
heusual twocopiesof
chromosome21, buttheyalsohaveadditi
onalgeneti
cmat er
ial
f r
om
chromosome21at t
achedtoanotherchromosome.

Sy
mpt
oms

EachpersonwithDownsyndr
omeisanindivi
dual—intel
lect
ualanddevel
opmental
probl
emsmaybemi l
d,moderat
eorsev
ere.Somepeopl eareheal
thywhil
eother
shave
si
gnif
icantheal
thpr
oblemssuchasser
iousheartdef
ects.

Chil
drenandadult
swithDownsyndr
omehav
edist
inctfaci
alf
eat
ures.Thoughnotal
l
peoplewithDownsyndromehav
ethesamef
eat
ures,someofthemor ecommon
feat
uresincl
ude:

 Fl
att
enedf
ace

 Smal
lhead

 Shor
tneck

 Pr
otr
udi
ngt
ongue

 Upwar
dsl
ant
ingey
eli
ds(
pal
pebr
alf
issur
es)

 Unusual
l
yshapedorsmal
lear
s

 Poormuscl
etone

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 Br
oad,
shor
thandswi
thasi
ngl
ecr
easei
nthepal
m

 Rel
ati
vel
yshor
tfi
nger
sandsmal
lhandsandf
eet

 Excessi
vef
lexi
bil
i
ty

 Ti
nywhi
tespot
sont
hecol
oredpar
t(i
ri
s)oft
heey
ecal
l
edBr
ushf
iel
d'
sspot
s

 Shor
thei
ght

Q6a.
An i
sochr
omosome 
isanunbal
anced 
str
uct
uralabnor
mal
i
ty 
i
nwhi
cht
hear
msof
the 
chr
omosome 
aremir
rori
magesofeachother

WHI
LE

A 
ri
ngchr
omosome 
i
sanaber
rant
 chr
omosome 
whoseendshav
efusedt
oget
hert
ofor
m ar
ing.

FORMATI
ONOFRI
NGCHROMOSOME

Ringchromosomesusual
lyresul
tfr
om twoter
mi nal
breaksinbothchr
omosomear ms,
foll
owedbyfusi
onofthebrokenendseach,
orfrom theunionofonebroken
chromosomeendwiththeopposit
etel
omereregion,l
eadingtothel
ossofgenet
ic
mat er
ial

FORMATI
ONOFI
SOCHROME

Isochromosomef ormat i
oni sarelativ
elyf r
equentchr omosomal
aber r
ati
on,mai nl
yi nXchr omosomes.Her ethechr omosomes
arenotdi vi
dedal ongt heirlength(seet henor mal di
visi
onoft he
chr omosomesf i
gur e)butt ransversel
y.Ther esulti
ng
i
sochr omosomes( karyogram)ei therhav etwoshor tort wolong
arms.Per sonswi tht hi
sXchr omosomeanomal yhav ethesame
phenot y
peaspat ientssuf feri
ngf r
om  Turner'
ssy ndrome  (
45,X0).
Thi si
sexplainedbyt hefactt hataXchr omosomear mis
mi ssi
ng.

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Fi
g.13 -
 Nor
maldiv
isi
on Fi
g.14 
-I
 sochr
omosomef
ormat
ion  
Legend
 
  
  
  
  
oft
hechromosome

Fig.13
Achr omosomehas
divi
dedi nacor r
ectway
alongitslength.Thi
s
result
si ntwoidenti
cal
daught erchromosomes.
Thispr ocesstakesplace
bothinmei osi
sandal soi
n
mi t
osis.

Ani
mat
ion 
(109Kb)

Fig.14
Achr omosomehas
divi
dedt r
ansversely.The
resulti
stwo,non-i denti
cal
daughterchromosomes( X
i
so( Xp)andXi so(Xq)).

A Nor
mal Xchromosome A Nor malXchromosome
B I
dent
icaldaught
erchr
omosomes B1 I
sochromosomeXi so(
Xp)
B2 I
sochromosomeXi so(
Xq)

6bi
.47,XXY:
 Peopl
ewi
th 
47,
XXY 
hav
eanext
ra 
chr
omosome.TheXand 
Y
chromosomes  arethe sexchromosomes.Femal esusual l
yhav etwo X
chromosomes  (46,XX)andmal esusuall
yhav eoneXandoneYchr omosome( 46, XY).
Peopl ewith47, XXYhav etwoXchr omosomesandoneYchr omosome.Somepeopl e
with47, XXYmayhav enonot i
ceablesignsorsy mptoms( f
eat ures)oronlymild
features.Othersmayhav emor emoder atetoseveref eat
ures Commonsy mptomsof47,
XXYi nclude l
owt estoster
one, 
infer
til
it
y, 
speechandl anguagepr oblems,and 
learning
dif
ficulti
es. 
Alt
hought hemaj ori
tyofpeopl ewith47,XXYi dent i
fyasmal es(gender
i
dent it
y),somepeopl ewi t
h47, XXYi denti
fyasfemale, i
ntersex, t
ransgender,
orpr efer
nott oidenti
fywi t
hagenderatal l
.

Chr
omosome 
7p 
del
eti
on 
(Del
p)i
sa 
chr
omosomeabnor
mal
i
ty 
thatoccur
swhent
her
eis

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a missingcopy  
ofthe genet
icmat erial
 locatedont heshor tarm(p)of 
chromosome7.The
severi
tyofthecondi ti
onandt hesignsandsy mptomsdependont hesizeandl ocati
onoft he
deleti
onandwhi ch 
genes ar
ei nvol
v ed.Feat ur
esthatof tenoccurinpeoplewithchromosome7p
deleti
oninclude developmentaldelay, 
intell
ectualdisabil
it
y,behavi
oralpr
oblems, anddisti
ncti
ve
facial
features.Mostcasesar enot  i
nher i
ted,butpeopl ecanpasst hedel
eti
onont otheir
chil
dren.Treatmenti sbasedont hesi gnsandsy mpt omspr esenti
neachper son.

6bi
i.A 
46,XYdi
sorderofsexdevelopment 
(DSD) 
isacondi
ti
oninwhi
chanindivi
dualwi
th
one Xchr
omosome andone Ychromosome ineach 
cel
l,
thepat
ter
nnormal
l
yf oundinmales,
havegeni
tal
i
athati
snotclearl
ymal eorf
emale.

6c

sy
mpt
omsmayi
ncl
ude:
[
1][
2][
3]

 Smal
l,
fir
m t
est
icl
es
 Del
ayedori
ncompl
etepuber
tywi
thl
ackofsecondar
ysexual
char
act
eri
sti
csr
esul
ti
ngi
n
sparsefaci
al,
body,orsexualhai
rahigh-
pit
chedvoiceandbodyfatdi
str
ibut
ionresul
ti
ng
i
nar ounder,l
owerhalfofthebody,wi
thmorefatdeposit
edint
hehips,butt
ocksand
thi
ghinsteadofar
oundt hechestandabdomen
 Br
eastgr
owt
h(gy
necomast
ia)
 Reducedf
aci
alandbodyhai
r
 I
nfer
ti
li
ty
 Tal
lst
atur
e
 Abnor
mal
bodypr
opor
ti
ons(
longl
egs,
shor
ttr
unk,
shoul
derequal
tohi
psi
ze)
 Lear
ningdi
sabi
l
ity
 Speechdel
ay
 Cr
ypt
hochi
rdi
sm
 Openi
ng(
meat
us)oft
heur
ethr
a(t
het
ubet
hatcar
ri
esur
ineandsper
mthr
ought
hepeni
s
tot
heoutsi
de)ont
heunder
sideoft
hepeni
s(hy
pospadi
as)i
nst
eadoft
het
ipoft
hehead
oft
hepenis
 Soc i
al,psychologicandbehav ioral pr
obl ems 
Whet herornotamal ewithKShasv i
siblesy mpt omsdependsonmanyf actors,i
ncludi
nghow
mucht estosteronehisbodymakes, ifhei s mosai c 
(withbothXYandXXY  cell
s),andhisage
whent hecondi ti
onisdiagnosedandt reated. 
[
1]
Somepeopl ehav easl i
ghtl
yincreasedri
skof
developingbreast cancer,arar
e extr
agonadal germ cell
t umor, lungdisease,vari
coseveins
and osteoporosis 
aswel lassomeaut oimmunedi sorderssuchas  systemiclupus
ery
themat osus, r
heumat oid 
art
hrit
is 
and  Sjogren'ssy ndrome.[
2][
4]
 

Somepeopl
ewi
thf
eat
uresofKl
i
nef
elt
ersy
ndr
omehav
emor
ethanoneext
ra 
Xchr
omosome 
i
n

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eachcel
l(suchas48,
XXXYor49,
XXXXY)
.Int
hesecases,
knownas"v
ar i
ant sofKli
nef
elt
er
syndr
ome",thesi
gnsandsy
mptomscanbemoresevereandmayi
nclude:[
1][
2][
4]

 I
ntel
l
ect
ual
disabi
l
ity
 Di
sti
nct
ivef
aci
alf
eat
ures
 Skel
etal
abnor
mal
i
ties
 Poorcoor
dinat
ion
 Sever
espeechdi
ff
icul
ti
es
 Behav
ior
alpr
obl
ems
 Hear
tdef
ect
s
 Teet
hpr
obl
ems.

Lastupdat
ed:
2/14/
2018

Cause

Li
sten

Kli
nefel
ter 
sy ndr
ome  usuallyoccursasarandom eventdur i
ngt hefor
mat i
onof reproduct
ive
cel
ls 
(eggsandsper m) .Anerrorin 
cell
 
div
isi
oncall
ed nondisjuncti
on 
result
sinar eproducti
ve
cel
lwithanabnor mal numberof  
chromosomes.Forexampl e,aneggorsper m cell
maygai n
oneormor eextr
acopi esofthe 
Xchr omosome asaresultofnondi sj
uncti
on.Ifoneoft hese
aty
picalreproducti
vecel lscontr
ibutestot
hegeneti
cmakeupofachi ld,t
hechildwi l
lhaveone
ormor eextraXchr omosomesi neachoft hebody'
scells.
[
2]

Mostoften,Klinef
elt
ersy ndromeiscausedbyasi ngleextr
acopyoftheXchromosome,
resul
ti
nginat otalof47chr omosomespercel l
.Malesnor mal
lyhaveoneXchromosomeand
one Ychromosome  ineachcel l(
46,XY),whi
lefemaleshav et
woXchr omosomes(46,
XX).
PeoplewithKlinef
eltersyndromeusuallyhavet
woXchr omosomesandoneYchr omosome(47,
XXY).Somepeopl ewi thKlinef
elt
ersyndromehav etheextraXchromosomeinonl
ysomeof
thei
rcell
s;thesepeopl earesaidtohave mosai
c Kli
nefel
tersy
ndrome.[
2]

Iti
sestimat edt
hatabouthalfoft
heti
me,thecelldi
vi
sionerr
oroccursdur
ingdev
elopmentof
thesperm, whil
etheremainderar
eduetoerror
sineggdev el
opment.Womenwhohav e
pregnanci
esaf t
erage35hav easli
ght
lyi
ncreasedchanceofhavi
ngof f
spr
ingwit
hthis
syndrome.[
5]

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Thefeat
uresofKl
i
nefel
tersyndr
omear eduet
otheextr
acopi
esof
 genes 
ont
heext
raX
chr
omosome, whi
chcanaltermalesexual
dev
elopment
.[
3]

Somepeopl ewithf
eat
uresofKli
nefelt
ersy
ndromehavecondit
ionsknownas"var
iant
sof
Kli
nefel
tersyndr
ome"wherether
eismor ethanoneext
ra 
sexchromosome 
ineachcell
(48,
XXXY, 48,
XXYY 
and 
49,XXXXY).
[
5]

Klinefelt
er 
syndr ome (KS)  i
sacondi tiont hatoccur si nmal eswhent heyhav eanext r
a X
chromosome.Somemal eswi t
hKShav enoobv ioussi gnsorsy mpt omswhi l
eot hersmayhav e
varyingdegreesofcogni t i
ve,social
,behav i
oral,andl earningdi ff
icult
ies.Adultswi thKlinefel
ter
syndr omemayal sohav epr i
mar y 
hypogonadi sm  (
decr easedt estoster oneproduct i
on),smal l
and/ orundescendent  
test es (
cryptorchidism) ,enlargedbr east  
ti
ssue  (gynecomast ia)
, t
all
stature,and/orinabi
lit
yt ohav ebiol
ogi calchildren(inferti
lit
y ), aswel l asanabnor mal openingof
thepeni s(hypospadias) ,andansmal lpenis(mi cropeni s)
.KSi snot  
inherit
ed,butusual lyoccurs
asar andom eventdur ingt heformationof  
reproduct ivecells  (eggsandsper m)t hatresultsin
thepr esenceofoneext racopyoft heX  chromosome  ineach  cell 
(47,XXY) .
 KSt reatmenti s
basedont hesignsandsy mpt omspr esenti neachper son.  
[
1][
2][
3]
Lifeexpect ancyisusual lynormal
andmanypeopl ewithKShav enor mal li
fe.Ther eisav erysmal l
riskofdev el
opi
ng
breast  
cancer 
andot hercondi t
ionssuchasachr onici nfl
ammat orydi seasecalledsy stemi c
l
upuser yt
hemat osus. 
[
3]

8.Mosaicism isa condition inwhichcellswithinthesamepersonhaveadifferentgenetic
makeup.Thi
s condi
ti
on 
canaf
fectanyt
ypeofcel
l
,incl
udi
ng:
Bloodcel
l
s.Eggandsper
m cel
l
s.
Ski
ncell
s.

CAUSES

Mosai
cism i
scausedbyanerrori
ncel
ldi
vi
sionv
eryear
lyi
nthedev
elopmentoft
heunbor
nbaby
.
Exampl
esofmosaicism i
ncl
ude:

 Mosai
c Downsy
ndr
ome
 Mosai
c Kl
i
nef
elt
ersy
ndr
ome
 Mosai
c Tur
nersy
ndr
ome

8B,Pat
au'ssyndr
omeisaseri
ousr
aregenet
icdi
sordercausedbyhav
inganaddi
ti
onal
copyofchromosome13insomeorall
ofthebody'
scell
s.It
'sal
socal
ledt
ri
somy13.

Eachcel
lnor
mall
ycont
ains23pai
rsof
 chr
omosomes,
whi
chcar
ryt
hegenesy
ou
i
nheri
tfr
om y
ourpar
ent
s. 

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Butababywi
thPat
au'
ssy
ndr
omehas3copi
esofchr
omosome13,
inst
eadof2.

9.
Aneupl
oidyi
sachr
omosomal
mut
ati
oni
nwhi
cht
her
eisoneormor
eext
rachr
omosomes,
oroneormorefewerchr
omosomes.Inhumans,t
hegenet
icdi
sor
der
sDownsy
ndr
omeand
Turner
'ssy
ndr
omear eexampl
esofaneupl
oidy
.

WHI
LE

Polyploidyisachromosomal mutat
ioninwhichacellhasenti
reext
raset
sofchr omosomes.
I
nsteadofbei ngdiploid,
inwhichthecellcontai
nstwosetsofchromosomes, i
tmaybetri
ploi
d
(t
hreeset sofchromosomes) ,ortet
rapl
oid(fourset
sofchromosomes).Polypl
oidyi
scommon
i
npl ants,andplantgrowersmayexpl oi
tthi
sfacttoproducepl
antswit
hflowershavi
ngdouble
petals.Polypl
oidyi
sgener al
l
ylethali
nanimals.

9B.Nondi
sjunct
ion 
ist
hefai
lur
eoft
wo 
chromosomes 
tosepar
atedur
inggametef
ormati
on,
resul
ti
ngi
ngamet eswi
theit
herami
ssi
ng 
chromosome 
(monosomy)oranext
raone(t
ri
somy).

9C.Tur
nersy
ndr
ome 
i
sduet
oachr
omosomal
abnor
mal
i
tyi
nwhi
chal
lorpar
tofoneoft
heX
chromosomesi
smissingoral
ter
ed.Whil
emostpeopl
ehave46chromosomes,peopl
ewithTS
usual
lyhav
e45.Thechromosomalabnor
mal
it
ymaybepr esenti
njustsomecel
l
sinwhichcase
i
tisknownasTSwithmosaici
sm.

Tur
nersyndrome, acondit
ionthataf
fectsonlyf
emales,r
esult
swhenoneoft heX
chr
omosomes( sexchromosomes)i smi ssi
ngorpart
ial
lymissi
ng. 
Turnersyndromecan 
cause
avari
etyofmedicalanddev el
opmentalprobl
ems,i
ncludi
ngshortheight
,fai
l
ur eoft
heovar
iest
o
devel
opandheartdefects.

Uni
par
ent
alDi
somy

Auniquefeat
uretoimpri
ntedcondi
ti
onsistheunusualsi
tuat
ioni
n
whi
chachi l
dinher
it
sbothcopiesofachromosomef rom one
par
entandnonef r
om theother
.Thi
sisknownas unipar
ental
di
somy( UPD).

Uni
parent
aldisomyusual l
yari
sesduet oaner rorinmeiosis.Two
chr
omosomesi neithertheeggorsper m cel
lfailtoseparateand
bot
hgetpassedt ot hefetus.Asar esul
t,t
hefet usinher
it
st hree
chr
omosomes( tr
isomy )rat
herthant wo.I
nrelativel
yrar
esi tuat
ions,Possi
bler
esul
tsofat
ri
somi
cembr
yo
oneofthethr
eechr omosomesi slost(ter
med trisomyrescue) ,

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r
esul
ti
ngi
na'normal'
two-
chromosomestat
e(di
somi
c)af
terf
ert
il
izat
ion.One-
thi
rdoft
het
ime,
t
hisl
osswi
ll
resul
tinuni
par
entaldi
somy
.

ForPWSandAS,i
fthechi
ldinher
itsbot
hcopiesofchr
omosome15f rom hi
sorhermother,
thenbot
hcopi
esofthePWSr egi
onwill
beinact
ivat
edandthechil
dwil
lhavePWS.Ifthechi
ld
i
nheri
tsbot
hcopi
esofchromosome15f rom hi
sorherfat
her
,thenheorshewil
lhaveAS.

Genetici
mpri
nti
ngalsoplaysapartinot
hergeneti
cdi
sor
der
s,suchasBeckwi
th-
Wiedemann
syndromeandRussell
-Si
l
v ersyndr
ome.Ther
efore,
uni
par
ent
aldisomycanhav
ear ol
eint
he
expressi
onoft
hesedisordersaswell
.

Cl
i
nical
Inf
ormat
iononDi
seases:

Beckwi
th-
Wiedemannsy
ndr
ome

Russel
l
-Si
l
versy
ndr
ome

XYY syndr
ome isarar
echromosomaldi
sor
derthataf
fect
smales.I
tiscausedbythepresence
ofanextraYchromosome.Malesnor
mall
yhaveoneXandoneYchr omosome.Howev er
,
i
ndivi
dualswit
hthi
s sy
ndrome 
haveoneXandtwoYchr omosomes.Affect
edindi
vidual
sare
usuall
yveryt
all
.

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18