A familial 22.59 Mb deletion of the 10q11.21q21.3 region on the neocentromeric chromosome 10 with coexistence of SMC(10): Case report and review of literature.

TL;DR

The father of this patient is the first described person with 10q11.21q21.3 deletion and presence of marker chromosome derived from this region, the literature review of patients with deletion in this region and mechanism of such chromosomal rearengement is discussed herein.