உயிரியல் மருத்துவ ஆராய்ச்சி

சுருக்கம்

Prenatal diagnosis of small supernumerary marker chromosome 15: A case report

Bo Wang, Zhi Liu, Handong Fu, Haitao Chen, Jinou Xi

Small Supernumerary Marker Chromosomes (sSMCs) are rare, being present in less than 0.08% of all pregnancies. The precise characterization of marker chromosomes is important for prenatal diagnosis and proper genetic counselling. Here we report a case of prenatally diagnosed de novo sSMC derived from chromosome 15. Our case emphasizes the importance of the modern aspects of array CGH in combination of thorough ultrasound examination to provide precise and rapid prenatal diagnosis.