Abstract
Objectives
The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion.
Design
Descriptive cohort.
Patients
One hundred patients with palatal abnormalities and suspicion of 22q11.2 DS were included.
Methods
All patients were evaluated by a clinical geneticist, who completed a standardized clinical protocol. The 22q11.2 deletion screening was performed with fluorescence in situ hybridization using the TUPLE1 probe and multiplex ligation-dependent probe amplification using the P250-A1 kit.
Results
The 22q11.2 deletion was detected in 35 patients, in whom the most frequent clinical features were congenital heart disease (15/30 – 50%), developmental delay (19/35 – 54%), speech delay (20/35 – 57%), learning disabilities (27/35 – 77%), immunologic alterations (18/29 – 62%). In addition, the most common facial dysmorphisms in this group were long face (27/35 – 77%), typical nose (24/35 – 69%), and hooded eyelids (19/35 – 54%). Comparing features in patients with or without the deletion revealed significant differences (positively correlated with the deletion) for speech delay, learning disabilities, conductive hearing loss, number of dysmorphisms, long face, and hooded eyelids. Cleft lip and palate was negatively correlated with the deletion.
Conclusions
The presence of speech delay, learning disabilities, conductive hearing loss, long face, and hooded eyelids should reinforce the suspicion of 22q11.2 DS in patients with palatal abnormalities and would help professionals direct clinical follow-up of these patients.
Keywords
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