Identification of genomic imbalances in oral clefts.

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 a

SUBMITTER: Lustosa-Mendes E 

PROVIDER: S-EPMC9432012 | biostudies-literature | 2021 May-Jun

REPOSITORIES: biostudies-literature