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J Pediatr Genet 2022; 11(01): 022-027
DOI: 10.1055/s-0040-1718386
Original Article

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

Kitiwan Rojnueangit 
1   Division of Genetics, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand
,
Thanitchet Khetkham 
2   Divison of Forensic Medicine, Thammasat University Hospital, Pathumthai, Thailand
,
Preyaporn Onsod
3   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Takol Chareonsirisuthigul 
3   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
› Institutsangaben Funding K.R. received a grant from Thammasat University (Grant No. 2/32/2558).
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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 - multiplex ligation-dependent probe amplification - clinical prediction

Authors' Contributions

K.R. designed the study, performed data analysis, wrote and edited manuscript, T.K. and P.O. performed genetic testing, and T.C. supervised genetic testing and wrote the manuscript.


Supplementary Material



Publikationsverlauf

Eingereicht: 13. Juni 2020

Angenommen: 30. August 2020

Artikel online veröffentlicht:
01. Oktober 2020

© 2020. Thieme. All rights reserved.

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