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CASE REPORT article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

A Rare Case of De Novo 20p12.3 Microdeletion Syndrome in a Nine-Year-Old Female: Case Report and Literature Review

Provisionally accepted
Hanan AljedaniHanan Aljedani1,2*Yousef FadenYousef Faden1,2Manar AlghamdiManar Alghamdi2,3,4Alshaimaa AlzahraniAlshaimaa Alzahrani2,3Aiman ShawliAiman Shawli1,2,3,4Reem AlbakistaniReem Albakistani2,4
  • 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
  • 2King Abdullah International Medical Research Center, Jeddah, Saudi Arabia
  • 3Genetics & Precision Medicine Department, King Abdullah Specialist Children Hospital, Jeddah, Saudi Arabia
  • 4Pediatrics Department, King Abdullah Specialist Children Hospital, Jeddah, Saudi Arabia

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Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed with 20p12.3 microdeletion syndrome. Whole genome sequencing revealed a deletion spanning 3.5 Mb and containing 31 genes. The patient presented with a range of clinical manifestations, including growth faltering, short stature, controlled seizure disorder, dysmorphic features, and metabolic disturbances. Regarding dysmorphic features, she presented with malar hypoplasia, a high arched palate, microstomia, long philtrum, proptosis, and retrognathia. Metabolic disturbances were primarily manifested as episodes of hypoglycemia with a high anion gap metabolic acidosis. Despite receiving growth hormone therapy as management for short stature, the patient exhibited low levels of insulin-like growth factor 1 (IGF1). This case report adds to the limited body of knowledge regarding 20p12.3 microdeletion syndrome.

Keywords: 20p12.3 microdeletion syndrome, Growth faltering, short stature, Seizure disorder, de novo gene deletion

Received: 20 Jul 2025; Accepted: 27 Oct 2025.

Copyright: © 2025 Aljedani, Faden, Alghamdi, Alzahrani, Shawli and Albakistani. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Hanan Aljedani, h.aljedani01@gmail.com

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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