A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature

Conclusion: This report highlights the importance of cytogenetics in diagnosis of rare genetic disorders, with impact on genetic counselling of patients and their families. There are three comparable cases in the literature involving both chromosomes 8 and 14, but with different breakpoints; the complex sSMC derived from chromosomes 8 and 14 in this case, characterized as der(14)t(8;14) (p22.3;q21)mat.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research