[사례] 염색체검사 오류사례 및 해결

1;q32)[5] 31.0%
46,XY,der(14)t(3;14) ………….. 25.9%


46,XY,dup(14)(q24;32)
46,XY,add(14)(q32.3)
46,XY,der(14)t(11;14)


00CY-02 PB Habitual abortion
46,XX,t(3;6;20)(q25;p25;q11.2)
20
6
3
46,XX,t(3;6;20)(q25;p25;q11.2) 34.5%
46,XX,t(3;6;20) …………. 30.6%


46,XY,t(20;3;6)
46,XY,t(6;20)
46,XY,t(3;20)
46,XY,der(6)t(3;6)
46,XY,der(3)t(3;6)
46,XY,dup(6)(p22p25)


00CY-03 Mental retardation, self injurious behaviour, sleeping problems
46,del(17)(p11.2p11.2)
Smith-Magenis syndrome
(microdeletion syndrome)
46,del(17)(p11.2p11.2) 17.2%

46,del(17)(p11.2p13) 13.8%
46,del(17)(p12) 10.3%
46,del(17)(p11.2) 10.3%
46,del(17)(p13)
46,del(17)(p11p11)

46,XX 17.2%
46,XX,t(16;17)
00CY-04 Mental retardation
47,XY,inv(1)(q23q42.1),+21
Down syndrome
47,XY,inv(1)(q23q42.1),+21 6.9%

47,XY,inv(1)(q23q42),+21 24.1%
47,XY,inv(1)(q23q42.3),+21 6.9%
47,X

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