Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.

Background Increasing number of cases with small supernumerary marker chromosomes (sSMCs) without centromeric DNA and dozens of cases with trisomy 2q3 have been reported in recent years. However, cases of simultaneous sSMC and partial trisomy of chromosome 2q have been rarely described.