Kelainan Autosom
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KELAINAN AUTOSOMBY : ALL OF CLASS A METHODIS 2012
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. Syndrome Down.
Syndrome Down.= Sinonim : Mongolisme, Mongoloid idiocy,
Trisomy-21.= Tanda-tanda : Tubuh pendek, wajah : kecil, bulat dan rata, hidung pesek, telinga : letak rendah, kecil dan hipoplastis, mata: epicanthic-fold, Brushfield spot, tangan dan jari : pendek, simian crease, hipoplasia tlg kelingking, otot-otot hipotonik.
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Retardasi mental : IQ= 25-50 (imbecil).
= Berat-badan lahir rendah, sering disertai CHD (40%), atresia duodenum,annular pancreas, Hirschprung disease, anus imperforata, tracheoesophageal fistula, leukemi limfoblastik akut, dll.
= Frekwensi : 1 dlm 600-800 kelahiran hidup.
= Sitogenetika : 1. Klasik : 47;XX/XY;21+,
2. Translokasi : 46,XX/XY; D/G trans. / G/G trans.
3. Mosaik : 46;XX/XY-47;XX/XY;21+.
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CONTOH GAMBAR
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Trisomy-18. ( syndrome edwards) Tanda-tanda :
= Kepala panjang, wajah : kecil, bulat, micronathia,
telinga letak rendah, cutis laxa, horse-shoe kidney,
syndactyly, hipertelorisme,, ptosis, dll.
= Retardasi mental yang hebat,
=Sitogenetika : trisomy kromosom no.18.
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Ciri ciri fisikAnak-anakpenderitasindromainibiasanyamempunyai:-Beratbadanlahirrendah-Gagaltumbuhkembang-Pertumbuhanrambut yang berlebihan (hipertrikosis)-Kelainanjantung, pembuluhdarahdanginjal-Kelainantulangtengkorakdanwajah-Kepala yang abnormal kecil (mikrosefali)-Rahang yang abnormal kecil (mikrognatia)-Arkuspalatumtinggi-Leherlebar (webbed neck)-Telingaletakrendah-Kelainanmata-Ptosis unilateral-Kekeruhanlensadankornea-Kelainanekstremitas
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Trisomy-13. ( syndrom patau)Tanda-tanda := Microcephaly,Labiopalatoschizis, abnormal
struktur CNS (arrhinencephaly), anophthalmia/ micropthalmia, coloboma-iris, CHD, cystic kidney, Meckel diverticulum, cryptorchismus, uterus bicornis, dll.
= BB-lahir rendah, sering apnoe dan cyanosis, Frank-seizure (myoclonic attack) dan umumnya penderita meninggal hari-I atau sebulan.
= Sitogenetika : Trisomi kromosom no.13. Dapat pula bentuk translokasi, atau mosaik.
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GAMBAR
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Trisomy-8. ( syndrome warkany )Tanda-tanda := Sulit didiagnose sebab tanda-tandanya variatif, = Tubuh pendek, kepala relatif besar, bersudut
dan cenderung bagian depan menonjol, telinga lebar dan malformasi, micronathia, ptosis, strabismus, cryptorchismus, hypospadia, hydronephrosis, atrio-ventricular septal defect,
= IQ rendah, kurang dari 30, speech problem, dll.=Sitogenetik : sering dlm bentuk mosaik.
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GAMBAR
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SINDROM TURNER Penderita mempunyai 44 autosom dan 1
kromosom x. Oleh karena itu, kariotipenya menjadi 45,xo atau 44 A + X. sehingga disebut monosomi (2n – 1). Dengan ciri-ciri:a. jenis kelamin wanita mengalami ovariculardisgenesis ( ovarium tidak tumbuh) sehingga mandulb. kehilangan satu kromosom xc. payu darah tidak tumbuh dan tidak haidd. gangguan kesehatan adalah gangguan ginjal, tekanan darah tinggi, jantung, diabetes, katarak, dan kelebihan berat badan.E. tubuh pendekf. pendengaran tidak sempurna.
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Gambar :
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Sindroma Klinefelter
Penderita pria dengan ciri seperti wanita :•tumbuhnya payudara•pertumbuhan rambut kurang•lengan dan kaki ekstrim panjang sehinggaseluruh tubuh nampak tinggi•suara tinggi seperti wanita•testis kecil•Genitalia eksterna tampak normal tetapispermatozoa biasanya tidak dibentuksehingga individu bersifat sterilFormula kromosom :47,XXY
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KEKURANGAN PADA JUMLAH KROMOSOM DAN AUTOSOM
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SINDROMA CRI-DU-CHAT atau
Syndrom tangisan kucing
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Syndrom cri-du-chat (sindrom tangisan kucing), sindroma SP adalah sekelompok kelainan yang terjadi akibat hilangnya kromosom.
• Penamaan sindroma ini didasarkan kepada tangisan bayi yang bernada tinggi dan terdengar seperti suara seekor kucing. Tangisan ini terdengar segera setelah bayi lahir dan berlangsung selama beberapa minggu kemudian menghilang. Sindroma ini ditemukan pada 1 siantara 20.000 dan 1 diantara 50.000 bayi
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Penyebab :
Sindroma ini teradi karena adanya penghapusan informasi pada keomosom 5. Penyebab teradinya penghapusan ini tidak diketahui,tetapi pada sebagian kasus ,dipekirakan penyebabnya adalah hilangnya satu keping kromosom 5 pada saat pembentukan sel telur atau sperma. Kasus lainnya terjadi karena salah satu orangtua membawa kromosom 5 yang telah mengalami translokasi (penyusunan ulang)
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Ciri ciri :Ciri - Ciri Tangisan bernada tinggi seperti suara kucing Berat badan lahir yang rendah Pertumbuhan yang lambat Bayi tampak lemas Kepalanya kecil Wajah asimetris dan mulutnya tidak dapat menutup rapat Hidung lebar Lehernya pendek Beberapa bayi memiliki wajah bundar(moon face) Hipertelorismekedua mata terpisah jauh) Fisurapalpebra(mata sipit ke bawah) Mikroghatia(rahang kecil) Letak telinga lebih rendah (mungkin bentuknya juga abnormal).
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Wolf-Hirschhorn Syndrome
•Terjadi karena delesi pada bagian lenganpendek (p) kromosom no.4•Kelainan ini sangat jarang terjadi•Penderita mengalami mikrocephali,sumbing, kemunduran mental, cacat padakulit kepala, hemangioma pada beberapabagian tubuh•Hemangioma : tumor jaringan lunak yangmuncul pada bayi atau anak2 usia kurangdari 1 th. Tidak berbahaya.
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Chromosomal Mutations & their effects
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Karyotype A picture of the chromosomes of an individual or
a species, including number, form, and size of the chromosomes.
Often used to diagnosis chromosomal abnormalities.
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Chromosomes
Humans have 23 pairs 22 pairs are autosomes 1 pair are sex chromosomes
(women = XX, men = XY)Chromosomes have a centromere that
holds the chromatids (two parts of the chromosome) together.
The top ½ of the chromosome is called the “p” arm and the bottom ½ is “q”
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Nondisjunction DisorderNondisjunction is the failure of
chromosome pairs to separate during meiosis (making of gametes – sex cells)
it can cause some gametes to gain an extra chromosome and others to lose one
Monosomy = A chromosome having no homologue (matching chromosome)
Trisomy =The condition of having three copies of a given chromosome in each somatic (body) cell rather than the normal number of two.
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Normal Male Karyotype
Normal Female Karyotype
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Turners Syndrome
1 in 5,000 births
45 chromosomesX only #23 MonosomyNondisjunction
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Turners Syndrome96-98% do not survive to birthNo menstruationNo breast developmentNo hipsBroad shoulders and neck
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Cri-Du-Chat Syndrome
1 in 216,000 births
46 chromosomesXY or XX
#5 Deletion of upper arm of chromosome
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Cri-Du-Chat SyndromeMoon-shaped faceHeart diseaseMentally retardedMalformed larynxNormal lifespan
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Aniridia-Wilms Tumor Syndrome
1 in 50,000,000 births
46 chromosomesXY or XX
#11 Deletion of upper arm
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Aniridia-Wilms Tumor Syndrome
Mentally retardedGrowth retardedBlindnessTumors on kidneysShort lifespan
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Thirteen Q Deletion Syndrome
1 in 500,000 births
46 chromosomesXY or XX
#13 Deletion of lower arm
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Thirteen Q Deletion SyndromeMentally retarded Deformed faceNo thumbs Heart diseaseShort lifespan
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Prader-Willi Syndrome
1 in 5,000,000 births
46 chromosomesXY=97% XX=3%
#15 Deletion of lower arm
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Prader-Willi SyndromeSmall bird-like headMentally retardedRespiratory problemsObesityShort lifespan
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Eighteen Q Deletion Syndrome
1 in 10,000,000 births
46 chromosomesXY or XX
#18 Deletion of lower arm
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Eighteen Q Deletion SyndromeMentally retardedHeart diseaseAbnormal hands and feetLarge eyesLarge earsNormal lifespan
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Cat-Eye Syndrome
1 in 1,000,000 births
46 chromosomesXY or XX
#22 Deletion of bottom arm
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Cat-Eye SyndromeFused fingers and toesMentally retardedSmall jawHeart problemsNormal lifespan
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Four-Ring Syndrome
1 in 10,000,000 births
46 chromosomesXY or XX
#4 Inversion
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Four-Ring Syndrome
Cleft palateClub feetTestes don’t descendShort lifespan
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Down Syndrome
1 in 31,000 births
46 chromosomesXY=97%
XX=3%
#14/21 Translocation
1 in 1,250 births
47 chromosomesXY or XX
#21 Trisomy Nondisjunction
Down Syndrome Trisomy
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Down Syndrome
Short, broad hands Stubby fingersRough skinImpotency in malesMentally retardedSmall round faceProtruding tongueShort lifespan
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Patau’s Trisomy Syndrome
1 in 14,000 births
47 chromosomesXY or XX
#13 Trisomy Nondisjunction
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Patau’s Trisomy Syndrome
Small headSmall or missing eyesHeart defectsExtra fingersAbnormal genitaliaMentally retardedCleft palateMost die a few weeks after birth
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Edward’s Trisomy Syndrome
1 in 4,400 births
47 chromosomesXX=80%
XY=20%
#18 Trisomy Nondisjunction
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Edward’s Trisomy SyndromeSmall head
Mentally retardedInternal organ abnormalities90% die before 5 months of age
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Jacob’s Syndrome1 in 1,800 births
47 chromosomesXYY only
#23 Trisomy Nondisjunction
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Jacob’s SyndromeNormal physicallyNormal mentallyIncrease in testosteroneAcneNormal lifespan
?
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Kleinfelter Syndrome
1 in 1,100 births
47 chromosomesXXY only
#23 Trisomy Nondisjunction
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Kleinfelter SyndromeScarce beardLonger fingers and armsSterileDelicate skinLow mental abilityNormal lifespan
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Triple X Syndrome
1 in 2,500 births
47 chromosomesXXX only
#23 TrisomyNondisjunction
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Triple X SyndromeNormally physically Normal mentallyTallFertilenormal lifespan
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