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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=457/24/2019 Abnormalitas kromosomal
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Klinefelter
Syndrome
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TurnerSyndrome
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%ragile %ragile
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