Dr.

Yavuz ahin

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

Prenatal 20 vakada aberasyon saptanm 3 dengeli translokasyon sadece konvansiyonel karyotipleme

Inv (9) t(8,11) Non obstruktif spermatojenik yetmezlik

Yq11.23 mikrodelesyonu saptanm

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. . .