Identification of genomic imbalances in oral clefts
J. pediatr. (Rio J.)
;
97(3): 321-328, May-June 2021. tab
Article
in English
| LILACS
| ID: biblio-1279326
ABSTRACT
Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.
Full text:
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Index:
LILACS (Americas)
Main subject:
Cleft Lip
/
Cleft Palate
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
J. pediatr. (Rio J.)
Journal subject:
Pediatrics
Year:
2021
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Faculdade de Medicina de São José do Rio Preto/BR
/
Hospital Infantil Albert Sabin/BR
/
Hospital de Clínicas de Porto Alegre/BR
/
Universidade Federal de Alagoas/BR
/
Universidade Federal do Rio Grande do Norte/BR
/
Universidade de Campinas/BR
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