Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities

Author(s):Show less -

Vieira, Tarsis P. ^[1] ; Monteiro, Fabiola P. ^[1] ; Sgardioli, Ilaria C. ^[1] ; Souza, Josiane ^[2] ; Fett-Conte, Agnes C. ^[3] ; Monlleo, Isabella L. ^{[4, 5]} ; Fontes, Marshall B. ^[4] ; Felix, Temis M. ^[6] ; Leal, Gabriela F. ^[7] ; Ribeiro, Erlane Marques ^[8] ; Gil-da-Silva-Lopes, Vera L. ^[1]

Affiliation

^[1] Univ Estadual Campinas, Fac Med Sci, Dept Med Genet, BR-13083887 Campinas, SP - Brazil

^[2] Assistance Ctr Cleft Lip & Palate, Curitiba, PR - Brazil

^[3] Med Sch Sao Jose do Rio Preto, Dept Mol Biol, Sao Jose Do Rio Preto, SP - Brazil

^[4] State Univ Alagoas, Med Genet Sect, Maceio, AL - Brazil

^[5] Univ Fed Alagoas, Univ Hosp, Clin Genet Unit, Maceio, AL - Brazil

^[6] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS - Brazil

^[7] Fernando Figueira Integral Med Inst, Facial Defects Treatment Ctr, Recife, PE - Brazil

^[8] Hosp Infantil Albert Sabin, Fortaleza, CE - Brazil

• Document type: Journal article
• Source: CLEFT PALATE-CRANIOFACIAL JOURNAL; v. 52, n. 4, p. 411-416, JUL 2015.
• Web of Science Citations: 5

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. (AU)

• FAPESP's process: 09/08756-1 - Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants