2)

( )

( )

1 & 2

? /

DNA

&

.. -

G A

G A /

/ G A

1% 99%

Lepore - (1%) -

(loop)

46,XX,del(8)(q24.11q24.21)

(5p-) (cri-du-chat)

~ 1/ 50.000 1% -

: 5p15

Down ( ) ( ) 21q22.2 q22.3 = (50 -100 )

( ), , , /

(ring chromosome)

.. r(20): r(13), r(14): ..

i (Xq) Turner i (18p), i (12p)

i(18p)

18

18

18p FISH 18cen

O (1 / 500 )

( , )

( )

Robertson

(13, 14, 15, 21, 22)

4% Down: 46, XX, -14, + t (14q21q) Robertson 21q21q: Down (1%) ( Robertson?)

TA

-1 (+ / +)

.

-2 (+ / +)

.

(+ / +)

. .

( )

( )

= ( , )

cen

: 3

Inv(3)(p25q21)

53 : - 7 - 31 - 15 &

:

. 3 . 3 dup(3q21-qter);

del(3p25-pter)

q21

p25

cen

arker chromosomes (supernumerary chromosomes) FISH ???

- q HC22 cat eye syndrome ( & )

Marker

: . 45 Robertson 14 21 . 46 Robertson 14 21 . 47, , +18 . 4 .

; ;