Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing

Kitiwan Rojnueangit; Thanitchet Khetkham; Preyaporn Onsod; Takol Chareonsirisuthigul

doi:10.1055/s-0040-1718386

Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing

J Pediatr Genet. 2020 Oct 1;11(1):22-27. doi: 10.1055/s-0040-1718386. eCollection 2022 Mar.

Authors

Kitiwan Rojnueangit¹, Thanitchet Khetkham², Preyaporn Onsod³, Takol Chareonsirisuthigul³

Affiliations

¹ Division of Genetics, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.
² Divison of Forensic Medicine, Thammasat University Hospital, Pathumthai, Thailand.
³ Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Abstract

The 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome with a wide variety of clinical features. However, as there are no clinical criteria for diagnosis, confirmation is solely done by genetic tests if clinicians recognize the syndrome. Therefore, we aimed to identify clinical features that may help clinicians recognize 22q11.2 DS. Participants with at least two anomalies were enrolled, complete patient history and physical examinations were performed, then multiplex ligation-dependent probe amplification (MLPA) analysis for 22q11.2 DS was utilized. We identified 11/48 (23%) cases with 22q11.2 DS. Palatal anomalies, hypocalcemia, and ≥3 affected body systems were highly significant presentations in the 22q11.2 DS group versus the group without deletion ( p < 0.05). Therefore, a comprehensive physical examination is crucial at identifying any subtle features which may lead to testing and a definite diagnosis.

Keywords: 22q11.2 deletion syndrome; clinical prediction; multiplex ligation-dependent probe amplification.

Grants and funding

Funding K.R. received a grant from Thammasat University (Grant No. 2/32/2558).