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襲一 燃 . !
h u n d re d s o f g e n e s .
r e g io n s o f c h ro m o s o
m e s t h a t a re ric h in t h e g e n
e t ic m a t e r ia l. A c o m m o n m is c o n c e p t
io n is t h a t b a n d s q u a lity
o f c h ro m o s o m a l s p re a
d s t o b e k a ry o ty p e d ,
a t y p i c a l p
r e p
e r a t i o n i n v o lv e s a r r e s
t i n g
t h e c e lls a th u m a n c h ro m o s o m e s c o � e n s e a n d a re
v is ib le w it h a l ig h t
m ic ro s c o p e . S o in o rd e r t o o b t a in t h e b
e s tro m o s o m e s w it h G ie m s a s ta
in D u r in g m e t a p h a s e
o f m it o s is , t h e 2 3 p a i r s E Uc o m m o n t e
c h n iE æ u « i- æ tic s
to p ro d u c e a v is ib le k a w
o ty p e b y
'
ĺM o f ľ a !c h r o m
o s o m a ï s p r e a d s a n d a r ra n g e t h
e m in t o a k a ry o t y p e
fo r t h e g e n e t ic is t t o a n a ly z e
a n d d ia g n o s e .a p ie c
e o f p a p e r, h i g h ly s p e c ia
liz e d s o ft w a re s in c y t o g
e n e t ic la b o ra t o r ie s c a n e a s ily a n
a ly z eT o d a y , i n s t e a d o f t h e t im e
-
c o n s u m in g p ro c e d u
re o f e n la rg in g , c u t t i n g ,
a n d a rra n g in g c h ro m o s o m e s o n t o
p r e p a re d -
ħ g s t a n cfa rd ìz ê đ t e rm s t o d e s c rib e
t h e fin d in g s . m m n u m b e r a n d b a n d in g p a t t
e r n s (lo c a t io n a n ? s ï z e s ì ĵ ĺ ť fie
b a n d s ) a n d a w r itt e n re p o
r t is
o E by . 1 ) s iz e (w it h t
h e e x c e p t io n o f t h e s e x c h ro m o s
o m e s , w h ic h a p p e a r ia s t ) m a t i o n . �
�
e n la rg e d a n d c u t u p in t o
in d iv id u a l c h r o m o s o m e s . T h e h o m o lo g a u s p a
irs a re id e n t ifie d a n d a r ra n g e d
.
InT o c re a t e a k a ry o ty p e , c h ro m o s o m e s f r o m a c e ll
a re s ta in e d a n d p h o t o g ra p h e d
. T h e p h o to g ra p h is
d e t e c t io n a n d t re a t m e n t re s p o n s e d e t e c t io n .
b e t t e r d ia g n o s is is a c o m m o n a p p lic a
t io n a s w e ll. F in a lly , k a r y o t y p i n
g p l a
y s a m a jo r ro le in c a n c e
rp r e g n a n c y , i s a n o t h e r a p p lic a t io n . K
a ry o ty p in g n e
w b o r n s s u s p e c t e d o f c e rt a in s y n d ro
m e s to g e t ac h r o m o s o
m e s o b t a in e d fr o m t h e a m n io t ic f lu id a re k a ry o ty p e
d t o te s t fo r a b n o rm a lit ie s d u rin g
w h e r e it c a n e x p la in r e p e a t e d
m is c a rr ia g e s o r fa ilu re to c o n c e iv e . A m n io c e n t e s is ,
i n w h i c h te s t c a lle d a k o ry o ty p e . K a
ry o ty p in g h a s s o m a n y a p p lic a
t io n s in a n u m b e r o f Ħe ld s , i n c l u d in g fe r tility ,
S o m e o f t h e a b n o rm a lit ie s a s s o c ia t e d w it h c h ro m o s o m e s t r u c t u re a n d / o
r n u m b e r c a n b e d e t e c te d b y a
k in d o f c h r o m o s o m a l a b n o r m a lity .
p r o b le m s , g e n e t ic d is e a s e s , c a n c e r s o r s y n d ro m e s . It is e s t
im a t e d t h a t o n e in 1 5 6 liv e b i r th s h a v e s o m e
ın o t h e r o c c a s io n s , s u c h c h ro m o s o m a l a b n o r m a lit ie s re s u lt in m e n ta l o r p h y s
ic a l d e v e lo p m e n ta l
t r a n s lo c a t io n , c a n b e s o s e v e r e t h a t t h e p re g n a n c y e n d s in m
is c a rr ia g e - o r f e rt iliz a t io n d o e s n o t
o c c u r e l d iv is io n o f t h e e a r ly e m b ry o .
S u c h c h a n g e s , p rim a rily t h e re s u lt o f n o n
- d isj u n c t io n o r d : O c c a s io n a lly , c h ro m o s o m a l m a te
r ia l is lo s t o r re a rra n g e d d u rin g t h e fo rm a t io n o f g a m e
te s
R a s h a A l- A ıi
H u m a n G e n e t ic s
C h r o m o s o m e s W o r k s h e e t
Jvy) ľ J / l
ć / / 1/
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나 咿 , łも
く了
” ‘
ĄF k v C o m m o n g e n e t
ic c a u s e o f m e n t a l re t a rd a
t io n . F r a g ile X S y
n d r o m e A b ı}o r m o / X c h r
o m o s o m e
A s s o c ia t e d w it h s m a ll h e a d , c h a r a
c t e r i s t i c c r y ,
a n d fa c ia l fe a t u re s ; d e a t h in in f a n c y o r e a r ly c
h ild h o o d .
S te r ile fe m a le s w it h im m a t u re s e x o rg a n s
n o r m a l in t e llig e n c e ; o c c u rs
in 1 in 5 , 0 0 0 b irt h s .
fe m a le s o n ly t h ro u g h k a ry o t y p in g ;
o c c u rs in 1 in 1 , 0 0 0 b irt h s . A ffe c t e d in d iv id u a ls t e n d t o b e t
a lle r a s a g ro u p ; n o rm a l in te llig e n c e ; X
X X D is t in g u is h e d f ro m n o r m a l X X
o c c u rs in 1 in 2 , 0 0 0 b ir th s .
T y p ic a lly s t e r ile m a le s w it h a b n o r m a lly s m a ll t e s te s ; s o
m e fe m a le c h a ra c t e ris t ic s ; n o r m a l in te llig e n c
e K tin e fe ¢t e r S y n d ro m e : X X Y
in f e c t io n , le u k e m ia , a n d A lz h e im e rs d is e a s e ; o c c u rs in 1 in 7 0 0 b irt h s in U . S .
A s s o c ia t e d w it h m e n t a l re ta r d a t io n , c h a r a c t e r is t i c fa c ia l fe a t u re s a n d s t a t u ri , h e a r t d e fe c ts , r e s p ir a to ry
D o w n S y n d r o m e : E x t r a c h ro m o s o m e 2 1
S o m e c h r o m o s o m a l a b n o rm a lit ie s t h a t c a n b e d e te c t e d b y k a ry o ty p in g a r e
n e x t s te p .
a llo w s C lin ic ia n s a n d g e n e t ic c o u n s e lo rs w o r ld w id e to in te rp re t t h e k a ry o ty p e c o r r e c t ly a n
d d e c id e t h e
n u m e r ic a l o r s t r u c t u r a l a b n o r m a lity u s in g d e t a i s a n d a b e rr a t io n s e x p la in e d in t h e Is C N b o
o k . T h is
In w h ic h t h e n u m b e r o f c h ro m o s o m e s is lis t e d fir s t fo llo iv e d b y t h e s e x c h r o m o s o m e s t h e n lis t in ß a n y
T o d e s c r ib e a K a ry o ty p e , g e n e t ic is t f o llo w t h e r n a t io n a l s y s t e m fo r
rrla le s h a v e b o t h a n X a n d a Y c h ro m o s o m e d e n o t e d 4 6 , X Y .
c h r o m o s o m e s . N o r m a l k a ry o ty p e s fo r fe m a le s c o n ta in tw o x c h r o m o s o m e s a n d a r e d e n o t e d 4 6 , X X
T h e n o r m a l h u m a n k a r y o ty p e s c o n t a in 2 2 p a irs o f a u t o s o m a l c h r o m o s o m e s a n d o n e p
a ir o f s e x
r p } p C -
t- c łH - ţ O e « ć ¢, ľ ·
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c h r o m o s o m e s a n d t h e t y p e
o f a b n o r m a lity ?
4 . D o w n '
s S y n d ro m e is k n o w n a s t ris
o m y 2 1 . w h a t d o e s t
h is m e a n in te rm s o f th e n u m b e r o f
3 . w h ic h p a irs o n t h e h u m a n k a ry o t y p
e a re k n o w n a s s e x c h ro m o s
o m e s ?
2 , W h ic h p a irs o n t h e h u m a n k a ry o ty p
e a r e k n o w n a s a u t o s o m e s ?
ą
c h ro m o s o m e s ?
1 . w h a t c h a ra c t e ris t ic s d id y o u u s e
t o m a t c h u p s im ila r c h ro m o s o m e s k n o
w n a s h o m o lo g o u s
#
- ı m Ħ �
�f gll o wi o g g u e
[f y o u r a n s w e r is y e s , n a m e t h e a b n o r m a lity
C h r o m o s o m a ı a b n o r m a lity e x is t s ?
3 W h a t is t h e s e x ?
2 _ N u m b e r o f c h r o m o s o m e s
W h ic h s e t d id y o u w o r k o n (A o r B )?
C o m p ï e ţ e m fo llg w in g
q u e s t io n s b e lo w a n d in c lu d e t h e m w it h y o u r k a ry o t y p e ín y o u r ï a b re p o r t .
6 . 0 n c e y o u r c h r o m o s o m e s a re a ll c u t o u t a n d in c lu d e d in th e k a ry o ty p e s , a n s w e r t h e
m u t a t io n / d is o r d e r -
s o t ry t o m a tc h it c o r re c t ly .
5 . In t h e e v e n t t h a t y o u h a v e a n e x t ra c h ro m o s o m e , ít ís th e c h ro m o s o m e t h a t c a u s e s y o u r
in t h e c o r re s p o n d in g p la c e o n t h e d a ta p a g e .
4 . C o n t in u e t h is p ro c e d u re u n t il y o u h a v e m a t c h e d a ll c h ro m o s o m e s a n d ta p e d e a c h o f t h e m
3 . T a p e e a c h h o m o lo g o u s p a ir o f c h ro m o s o m e s s id e b y s id e ,
ra t h e r t h a n t ry in g t o c u t a ro u n d t h e m a rg in o f e a c h c h ro m o s o m e .
2 . C u t o u t e a c h c h r o m o s o m e w it h s c is s o rs . T o m a k e it g o fa s te r, c u t t he m o u t a s s q u a re s
c h r o m o s o m e s h a v e b e e n la b e le d fo r y o u a s e ith e r x o r Y c h ro m o s o m e s .
C o u n t y o u r c h r o m o s o m e s a n d id e n t ify y o u r s e x c h ro m o s o m e s . N o te t h a t t h e s e x
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