Family Medicine & Medical Science Research
Open Access

Fatma Silan

Publications

• Case Report
  Triploidy/Diploidy Mosaisizm, Diandry and Uniparental Isodisomy: Fetus with Omphalocele and Contracted Finger
  Author(s): Fatma Silan, Ayse Nur Cakir Gungor, Mine Urfali, Ahmet Uludag, Evren Cavus, Evrim Koc and Ozturk OzdemirFatma Silan, Ayse Nur Cakir Gungor, Mine Urfali, Ahmet Uludag, Evren Cavus, Evrim Koc and Ozturk Ozdemir
  
  Omphalocele is an abdominal wall defect that bowel and/or other visceral organs herniate from umbical ring, which is covered by peritoneal sac. Omphalocele pathogenesis is not clear but familial and genetical factors plays important role to development of omphalocele. Twenty years old, 19 weeks 4 days pregnant, primigravid patient presented. In her ultrasonographic assessment omphalocele was detected and fetus was death. Pregnancy was terminated and genetic studies were performed from fetal blood and tissue biopsy. Karyotype from intracardiac blood sample was found 46, XX. QF-PCR analysis performed from the DNA obtained from fetal skin biopsy; 4:1 peak ratio observed in all the STR regions. This is the first case shows 4:1 peaks at QF-PCR. This finding was incompatible with karyotype. So mosaicism doubt occurred. FISH from skin biopsy showed diploid/triploid mosaicism. Fetuses with om.. View More»
  DOI: 10.4172/2327-4972.1000I180

  Abstract PDF

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