Original ArticlesClinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletionJehee, Fernanda S.a; Bouma, Tiab; Bouman, ArjanaAuthor Information aDepartment of Clinical Genetics, Erasmus MC University Medical Center bStichting Gemiva SVG-group, Rotterdam, The Netherlands Received 29 September 2020 Accepted 23 December 2020 Correspondence to Arjan Bouman, MD, Department of Clinical Genetics, Erasmus Medical Center, Room Ee-2018, 3000 CA Rotterdam, The Netherlands, Tel: +31 107 036 915; fax: +31 107 043 072; e-mail: [email protected] Clinical Dysmorphology: July 2021 - Volume 30 - Issue 3 - p 130-136 doi: 10.1097/MCD.0000000000000365 Buy Metrics Abstract Interstitial deletions encompassing the 10q24.32q25.1 region are rare. Only three patients have been reported in literature to date. We describe a 44-year-old female with a 2.8 Mb microdeletion in 10q24.32q25.1. Clinical findings in this patient are delineated and compared to previously reported patients with (partly) overlapping microdeletions. Based on the few descriptions available in the literature, the major phenotypic features of microdeletion 10q24.32q25.1 seem to be profound developmental delay, severe intellectual disability, short stature, cleft lip and palate, multiple congenital malformations (brain, kidney and cardiac), ophthalmic problems and an increased risk to develop basal cell carcinoma. As far as we are aware, this is the first report of an adult patient with a 10q24.32q25.1 microdeletion in literature. Suggestions are made regarding the medical work-up for newly identified patients with a 10q24.32q25.1 microdeletion as well as for a possible interaction of the compound deletion of SUFU and FGF8 in midline craniofacial abnormalities. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.