医学遗传学 medical genetics 邓代千 email : daiqiand@163 牡丹江医学院生物教研室
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医学遗传学 Medical Genetics 邓代千 Email : [email protected] 牡丹江医学院生物教研室. 染色体畸变. 一 染色体数目异常. 二 染色体结构畸变. 本 章 小 结. 第二节 染色体畸变. 1. 物理因素 : 射线. 2. 化学因素 :药物、农药、工业毒物、 食品添加剂. 3. 生物因素 :生物类毒素 、病毒等. 4. 母亲年龄. 三倍体( triploid ). 整倍性改变. 四倍体( polyploid ). 数目异常. 超二倍体 ( hyperdiploid ) - PowerPoint PPT PresentationTRANSCRIPT
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Medical Genetics
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1.:2.
3. 4.
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(numerical abnormality)
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(eulpoid) (polyploid)1. (triploid) : (1) 3n = 69 69,XXY 69,XYY 69,XXX
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(digyny) (2) :
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(diandry)
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(69 XXX 69 XXY 69 XYY)(3n3n/2n)
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2 :
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(aneuploid)
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1. (1) (monosomy):45X
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(2):(trisomy): 1718
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47XXY(Klinefelter syndrome)
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2.
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1/2(n1)1/2(n1)1/2 (2n1)1/2 (2n1)
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MI
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1/2n1/4(n1)1/4(n1)1/2 2n 1/4 (2n1)1/4 (2n1)
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MII
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1/2n1/2(n1)1/2 2n 1/2 (2n1)
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(mitotic non-disjunction) (mosaic)
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(mitotic non-disjunction)46/47/45 47/45
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(2) (loss) 46XY/45X 46XX/45X
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(structural aberration) /
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() 12 46XXdel 1q21:46XXdel 1pterq21:
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1.deletion del 46XXdel4q27 46XXdel4pter q27:
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(deletiondel)(interstitial deletion)4q13
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2duplication,dup
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46XYinv 4q13q2446XYinv 4pter q13 ::q24 q13::q24 qter (inversioninv) (paracentric inversion)4q134q244q244q13
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(inversioninv) (pericentric inversion)4p144q214p144q21
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(inversioninv) (pericentric inversion)
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46XYt420q25q1246XYt4204pter4q25::20q1220qter 20pter20q12::4q254qter(translocationt)(reciprocal translocation)
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(translocationt)(reciprocal translocation)
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(translocationt)(reciprocal translocation)
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(translocationt)(reciprocal translocation)ABCD
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18AB, CD)(AD, BC)
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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*
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45XX-14-21+t14;21p11;q11(translocationt)(robertsonian translocation)
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(translocationt)(robertsonian translocation)
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46XYr2p21q31(ring chromosomer)
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ring chromosome,r
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(ring chromosomer)
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46XIXq(isochromosomei)
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45XXdic611q22p15(dicentric chromosomedic)
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* 2-4* 24* 33