Masani Jigneshkumar Naranbhai
School Of Science
Jiwaji University, Gwalior
A supernumerary marker chromosome is an extra structurally abnormal chromosome of unknown origin. Various factors contribute to the difficulty of clarifying the phenotypicrisks of super numerary marker chromosomes (SMC), including differences inthe size, structure, and origin of marker chromosomes.
All marker chromosomes do not contribute the same risk of recurrence. Therefore characterization of the marker chromosomes is of utmost importance for Genetic Counseling. Different molecular techniques can be used to identify the chromosome material present in the markers. In the present retrospective data analysis of 15,000 karyotypes of all patients referred to the Center of Medical Genetics, Sir Ganga Ram Hospital from 1998 to 2012. For constitution chromosome abnormality detection, we found fifteen (0.01%) patients had presence of the SMC. Of these fifteen, eight markers had been characterized after FISH was introduced in the year 2004. This contributed to personalized Genetic Counseling and help for future pregnancies.