Supplemental Material for: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

<p dir="ltr">Introduction</p><p dir="ltr">We report a boy with intellectual disability and dysmorphic features carrying an interstitial 22.59 Mb deletion of the 10q11.21q21.3 region that contains 95 coding genes.</p><p dir="ltr">Case Presentation</p><p dir="ltr">The 8-year old male patient is the second child born from the third pregnancy to<br>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 the 10q11.21q21.3 region in the neocentromeric chromosome 10 in all cells and an extra small marker chromosome (SMC) derived from chromosome 10 in 50% of analysed cells.</p><p dir="ltr">Conclusion</p><p dir="ltr">To our best knowledge the father of our patient is the first person described with a 10q11.21q21.3 deletion and the presence of a marker chromosome derived from this region.

A literature review of patients with deletion in this region and the mechanism of such a chromosomal rearrangement is discussed herein.</p><p dir="ltr">The CARE Checklist has been completed by the authors for this case report and is attached as online supplementary material.</p>