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.

Introduction We report a boy with intelectual disability and dysmorphic features and interstitial 22.59 Mb 10q11.21q21.3 deletion that contains 95 coding genes. Case Presentation The 8-year old male patient is the second child born from the third pregnancy to non-consanguineous parents. The aberration was inherited from a 34-year-old phenotypically normal father in whom cytogenetic and molecular analyses revealed a mosaic karyotype, with two cell lines: deletion of 10q11.21q21.3 region in neocentromeric chromosome 10 in all cells and extra small marker chromosome (SMC) derived from chromosome 10 in 50% analysed cells. Conclusion To our best knowledge the father of our 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. The CARE Checklist has been completed by the authors for this case report and is attached as online supplementary material.