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Ama G bant / array CGH Metod BAC-based aCGH (MacArray M-chip) 181 BAC klon Hedef 26 genetik sendrom(submikroskopik delesyon/duplikasyon) 132 rnek, 94 klinik amniosentez 34.4 maternal ya Sitogenetik analizler ve aCGH farkl laboratuvarla 132 rnek Coriell Cell Resource
Prenatal Tan
Hz ve Doruluk Konvansiyonel G bantlama Altn standart FISH, QF-PCR, MLPA Mikrodelesyon / Duplikasyon Whole genome aCGH BAC based aCGH
Metod
22 genetik bozukluk / 132 rnek 94 amniosentez kabul edildi 2 laboratuvar FISH Yq11.23
Endikasyon leri Anne Ya Serum Tarama Testi Anormal Anormal USG bulgular Aile Hikayesi + ICSI ile Gebelik Rubella IgM + Dier rnek says 42 38 12 2 6 1 3
Sonu
Uygulanabilirlii Tm aberasyonlar saptanm 4 vaka saptand Prader-Willi Sendromu Cri-du-chat Sendromu Duchenne Muskler Distrofi Trizomi 18 Yq11.23 delesyonu
Type
Micro deletion & Duplication
Disease ALAGILLE SYNDROME ANGELMAN SYNDROME CRI-DU-CHAT SYNDROME DIGEORGE SYNDROME GLYCEROL KINASE DEFICIENCY KALLMANN SYNDROME 1 MILLER-DIEKER LISSENCEPHALY SYNDROME MONOSOMY 1p36 SYNDROME MUSCULAR DYSTROPHY, DUCHENNE TYPE NEUROFIBROMATOSIS, TYPE I NEUROFIBROMATOSIS, TYPE II PRADER-WILLI SYNDROME SEX-DETERMINING REGION Y SMITH-MAGENIS SYNDROME SOTOS SYNDROME SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED STEROID SULFATASE DEFICIENCY DISEASE WILLIAMS-BEUREN SYNDROME WOLF-HIRSCHHORN SYNDROME
Fail 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Success 1 1 10 14 1 0 2 0 1 1 1 33 0 2 0 1 1 3 2
Type Aneuploidy
Disease Trisomy 13 Trisomy 18 Trisomy 21 Turner syndrome (45,X) Klinefelter syndrome (47,XXY) Triple X (47,XXX) 47,XYY
Fail 0 0 0 0 0 0 0
Success 19 24 10 1 2 1 1
Sonu
Konvasiyonel karyotiplemeyle tespit edilemeyen aberasyonlarn tespitine imkan vermesi. BAC tabanl aCGH prenatal tanda kullanlabilir. Snrl sayda klon kullanlyor,fakat artrlabilir. Whole genom aCGH yorum zorluu
Teekkrler. . .