Medical Genetics
1.:2.
3. 4.
(numerical abnormality)
(eulpoid) (polyploid)1. (triploid) : (1) 3n = 69 69,XXY 69,XYY 69,XXX
(digyny) (2) :
(diandry)
(69 XXX 69 XXY 69 XYY)(3n3n/2n)
2 :
(aneuploid)
1. (1) (monosomy):45X
(2):(trisomy): 1718
47XXY(Klinefelter syndrome)
2.
1/2(n1)1/2(n1)1/2 (2n1)1/2 (2n1)
MI
1/2n1/4(n1)1/4(n1)1/2 2n 1/4 (2n1)1/4 (2n1)
MII
1/2n1/2(n1)1/2 2n 1/2 (2n1)
(mitotic non-disjunction) (mosaic)
(mitotic non-disjunction)46/47/45 47/45
(2) (loss) 46XY/45X 46XX/45X
(structural aberration) /
() 12 46XXdel 1q21:46XXdel 1pterq21:
1.deletion del 46XXdel4q27 46XXdel4pter q27:
(deletiondel)(interstitial deletion)4q13
2duplication,dup
46XYinv 4q13q2446XYinv 4pter q13 ::q24 q13::q24 qter (inversioninv) (paracentric inversion)4q134q244q244q13
(inversioninv) (pericentric inversion)4p144q214p144q21
(inversioninv) (pericentric inversion)
46XYt420q25q1246XYt4204pter4q25::20q1220qter 20pter20q12::4q254qter(translocationt)(reciprocal translocation)
(translocationt)(reciprocal translocation)
(translocationt)(reciprocal translocation)
(translocationt)(reciprocal translocation)ABCD
18AB, CD)(AD, BC)
18 AB CD AD CB 1 AB CB AD CD 2 AB AD CB CD *AB AB *CD CD *CB CB *AD AD3 : l AB CB CD AD CB CD AD AB3 : lCD AD AB CB AD AB CB CD*
45XX-14-21+t14;21p11;q11(translocationt)(robertsonian translocation)
(translocationt)(robertsonian translocation)
46XYr2p21q31(ring chromosomer)
ring chromosome,r
(ring chromosomer)
46XIXq(isochromosomei)
45XXdic611q22p15(dicentric chromosomedic)
* 2-4* 24* 33
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