Article
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
American journal of medical genetics. Part A - 1 Jan 2017
Quinonez Shane C, Gelehrter Thomas D, Uhlmann Wendy R
Abstract excerpt
Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital...
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