2026-10-12T03:22:36Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33923038 2026-09-18T07:41:37Z category_7 portal_147 item_type_3 month_year_09_2026

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 figshare admin karger (2628495) Joanna Bernaciak (25070863) Marta Ewa Kędzior (25070864) Kamila Ziemkiewicz (25070866) Izabela Plaskota (25070869) Barbara Wiśniowiecka-Kowalnik (25070882) Maria Boczar (25070885) Ewa Obersztyn (4745613) Beata Anna Nowakowska (25070909) Medicine medicine <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> 2026-09-18T07:41:37Z Dataset Dataset 10.6084/m9.figshare.33923038.v1 https://figshare.com/articles/dataset/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/33923038 CC BY 4.0