abnormalitas kromosomal

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    Abnormalitas kromosomalAbnormalitas kromosomal

    Yudha PatriaYudha Patria

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    DNADNA

    -- blueprintblueprintketurunanketurunan

    - mengandung gena - gena- mengandung gena - gena

    - dibungkus di dalam kromosom- dibungkus di dalam kromosom

    Kelainan kromosomKelainan kromosom

    kelainan gena-gena (multikelainan gena-gena (multigena)gena)

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    Etiologi abnormalitasEtiologi abnormalitas

    kromosomalkromosomal

    SpontanSpontan Abnormalitas gametogenesis ortuAbnormalitas gametogenesis ortu Defsiensi, toksisitas, ekses bahanDefsiensi, toksisitas, ekses bahan

    kimiaikimiai !adioisotop, radiasi!adioisotop, radiasi

    "asa kritis#"asa kritis#- $ametogenesis$ametogenesis- %ertilisasi%ertilisasi- Pembelahan sigotPembelahan sigot

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    Kromosom manusiaKromosom manusia

    &', atau &', Y&', atau &', Y

    ps otosom homolog, ps otosom homolog,

    * ps kromosom seks homolog+heterolog* ps kromosom seks homolog+heterolog

    Klasifkasi Kromosom#Klasifkasi Kromosom#- besar- besar keil (* )keil (* )

    - .etak sentromer- .etak sentromer

    metasentrik, submetasentrik,metasentrik, submetasentrik,akrosentrikakrosentrik

    - Keduan/a#- Keduan/a# A (* to 0), 1 (& and 2), 3 (' to *), D (*0 to *2), E (*' to *4),A (* to 0), 1 (& and 2), 3 (' to *), D (*0 to *2), E (*' to *4),

    % (*5 and 6), $ (* and ) dan kromosom seks% (*5 and 6), $ (* and ) dan kromosom seks

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    kk

    " b li

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    "aam abnormalitas"aam abnormalitas

    kromosomalkromosomal

    *7 8umlah*7 8umlah- ploid, -somi (aneuploid)- ploid, -somi (aneuploid)

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    7 Abnormalitas Struktur7 Abnormalitas Struktur

    9ranslokasi9ranslokasi DelesiDelesi

    :n;ersi:n;ersi

    !ing dan isohromosome!ing dan isohromosome

    07 Perbedaan07 Perbedaan cell linecell line

    "osaik"osaik

    KimerismeKimerisme

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    9ranslokasi9ranslokasi

    - !esiprok (balans, tdk-balans)- !esiprok (balans, tdk-balans)

    - !obertsonian- !obertsonian

    :n;ersi:n;ersi

    - Perisentrik- Perisentrik- Parasentrik- Parasentrik

    Delesi#Delesi#

    - makro-, mikro-- makro-, mikro-

    - 9erminal, intersisial- 9erminal, intersisial

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    9ranslokasi resiprokal9ranslokasi resiprokal

    balansbalans

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    9ranslokasi !obertsonian9ranslokasi !obertsonian

    *& **& *

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    !ing dan isokromosom!ing dan isokromosom

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    "osaik"osaik

    9erdapatn/a dua atau lebih9erdapatn/a dua atau lebih cell linecell line/ang berbeda konstitusi genetikn/a/ang berbeda konstitusi genetikn/a

    pada satu indi;idu atau satupada satu indi;idu atau satu

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    NomenklaturNomenklatur

    pp

    **

    **

    ==

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    Simbol Penulisan Kar/otipeSimbol Penulisan Kar/otipe

    pp lengan pendeklengan pendek

    == lengan pan atau - penambahan atau kehilanganpenambahan atau kehilangan

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    3ontoh3ontoh

    &',, del (*) (=*)&',, del (*) (=*)

    &',Y, dup (*0) (=*&)&',Y, dup (*0) (=*&)

    &',, i(=)&',, i(=) &',, in; (5) (p*=*)&',, in; (5) (p*=*)

    &',, t (?&) (=*?=*)&',, t (?&) (=*?=*)

    &',Y+&@, Y&',Y+&@, Y &@,Y >*&@,Y >*

    &',Y, *p-&',Y, *p-

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    Down Syndrome

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    9risomi * (&@>*, &'Y+9risomi * (&@>*, &'Y+

    &@>*)&@>*)

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    http://rds.yahoo.com/S=96062857/K=cleftlip/v=2/SID=w/l=II/SS=i/OID=0d9b7e2e45f62ef4/R=12/*-http://images.search.yahoo.com/search/images/view?back=http%3A//images.search.yahoo.com/search/images%3Fp=cleftlip%26ei=UTF-8&h=221&w=273&imgcurl=www.pref.shizuoka.jp/kenhuku/kf-14/hospital/section/cleftlip/photo/cleftlip1.jpg&imgurl=www.pref.shizuoka.jp/kenhuku/kf-14/hospital/section/cleftlip/photo/cleftlip1.jpg&name=cleftlip1.jpg&p=cleftlip&rurl=http%3A//www.pref.shizuoka.jp/kenhuku/kf-14/hospital/section/cleftlip/clasification.html&rcurl=http%3A//www.pref.shizuoka.jp/kenhuku/kf-14/hospital/section/cleftlip/clasification.html&type=jpeg&no=12&tt=45http://rds.yahoo.com/S=96062857/K=cleftlip/v=2/SID=w/l=II/SS=i/OID=8cd936a41b6326a4/R=8/*-http://images.search.yahoo.com/search/images/view?back=http%3A//images.search.yahoo.com/search/images%3Fp=cleftlip%26ei=UTF-8&h=284&w=282&imgcurl=www.diegothedog.com/ecuador/EcuadorTrip/images/CleftLip_jpg.jpg&imgurl=www.diegothedog.com/ecuador/EcuadorTrip/images/CleftLip_jpg.jpg&name=%3Cb%3ECleftLip%3C/b%3E_jpg.jpg&p=cleftlip&rurl=http%3A//www.diegothedog.com/ecuador/EcuadorTrip/pages/CleftLip_jpg.htm&rcurl=http%3A//www.diegothedog.com/ecuador/EcuadorTrip/pages/CleftLip_jpg.htm&type=jpeg&no=8&tt=45http://rds.yahoo.com/S=96062857/K=cleftlip/v=2/SID=w/l=II/SS=i/OID=c1a649f4ac752b46/R=4/*-http://images.search.yahoo.com/search/images/view?back=http%3A//images.search.yahoo.com/search/images%3Fp=cleftlip%26ei=UTF-8&h=368&w=332&imgcurl=www.andymatlock.com/Images/portfolio/CleftLip.jpg&imgurl=www.andymatlock.com/Images/portfolio/CleftLip.jpg&name=%3Cb%3ECleftLip%3C/b%3E.jpg&p=cleftlip&rurl=http%3A//www.andymatlock.com/CleftLip.htm&rcurl=http%3A//www.andymatlock.com/CleftLip.htm&type=jpeg&no=4&tt=45http://rds.yahoo.com/S=96062857/K=cleftlip/v=2/SID=w/l=II/SS=i/OID=117261105d136950/R=6/*-http://images.search.yahoo.com/search/images/view?back=http%3A//images.search.yahoo.com/search/images%3Fp=cleftlip%26ei=UTF-8&h=206&w=638&imgcurl=www.nevadaplasticsurgery.com/images/Patient%2520Photos/cleftlip4aborigcombo.jpg&imgurl=www.nevadaplasticsurgery.com/images/Patient%2520Photos/cleftlip4aborigcombo.jpg&name=cleftlip4aborigcombo.jpg&p=cleftlip&rurl=http%3A//www.nevadaplasticsurgery.com/Cleft%2520Lip.htm&rcurl=http%3A//www.nevadaplasticsurgery.com/Cleft%2520Lip.htm&type=jpeg&no=6&tt=45http://rds.yahoo.com/S=96062857/K=cleftlip/v=2/SID=w/l=II/SS=i/OID=a3357d82a31fb352/R=1/*-http://images.search.yahoo.com/search/images/view?back=http%3A//images.search.yahoo.com/search/images%3Fp=cleftlip%26ei=UTF-8&h=768&w=1024&imgcurl=pfb.kimc.net/cleftlip.jpg&imgurl=pfb.kimc.net/cleftlip.jpg&name=%3Cb%3Ecleftlip%3C/b%3E.jpg&p=cleftlip&rurl=http%3A//pfb.kimc.net/&rcurl=http%3A//pfb.kimc.net/&type=jpeg&no=1&tt=45http://rds.yahoo.com/S=96062857/K=cleftlip/v=2/SID=w/l=II/SS=i/OID=002f98be5da845ba/R=2/*-http://images.search.yahoo.com/search/images/view?back=http%3A//images.search.yahoo.com/search/images%3Fp=cleftlip%26ei=UTF-8&h=520&w=381&imgcurl=www.nevadaplasticsurgery.com/images/Patient%2520Photos/cleftlip1orig.jpg&imgurl=www.nevadaplasticsurgery.com/images/Patient%2520Photos/cleftlip1orig.jpg&name=cleftlip1orig.jpg&p=cleftlip&rurl=http%3A//www.nevadaplasticsurgery.com/Cleft%2520Lip.htm&rcurl=http%3A//www.nevadaplasticsurgery.com/Cleft%2520Lip.htm&type=jpeg&no=2&tt=45
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    Klinefelter

    Syndrome

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    TurnerSyndrome

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    %ragile %ragile