22q11.2 deletion syndrome in children with palatal anomaly: who and when to test?

A notable number of children who attended the cleft clinic suffered from 22q11.2DS. Clinicians managing children with cleft anomalies should maintain a high index of suspicion and consider early specific 22q11.2DS genetic investigations in accordance with locally available resource and disease prevalence.

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Publication Details

Journal
Singapore Medical Journal
Published
2025-05-02
DOI
https://doi.org/10.4103/singaporemedj.smj-2024-131
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.00
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article

22q11.2 deletion syndrome in children with palatal anomaly: who and when to test?

Stephanie D. Chao, Kim Hung Lee, KW Chan, Siu Yan Bess Tsui et al.
Singapore Medical Journal
Congenital heart defects research
article

22q11.2 deletion syndrome in children with palatal anomaly: who and when to test?

Stephanie D. Chao, Kim Hung Lee, KW Chan, Siu Yan Bess Tsui, Man Yee Paula Tang
article en

Abstract

A notable number of children who attended the cleft clinic suffered from 22q11.2DS. Clinicians managing children with cleft anomalies should maintain a high index of suspicion and consider early specific 22q11.2DS genetic investigations in accordance with locally available resource and disease prevalence.

Singapore Medical Journal
Duchess of Kent Children's Hospital (CN)
Openalex Percentile: Top 91%
Congenital heart defects research
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