Suleima Carpeta, MSc1, Tatiana Pineda, MD1, Maria Claudia Martı´nez, DDS2, Gloria Osorio, PhD1, Gloria Liliana Porras-Hurtado, MD, PhD3, Jorge Rojas, MD1, Ignacio Zarante, MD, PhD1, and Olga Marı´a Moreno-Nin˜ o, MSc, cPhD1



Abstract

The objective of this work was to identify 22q11.2 chromosomal deletion in patients with cleft lip and/or cleft palate and suggestive syndromic phenotype in Colombian patients. We studied 49 patients with cleft lip and/or cleft palate, exhibiting additional clinical findings linked to 22q11.2 deletion syndrome. All patients underwent high-resolution G-banded karyotyping, multiplex ligation-dependent probe amplification, and clinical evaluation by a geneticist. Seven patients presented 22q11.2 deletion and 2 patients had other chromosomal abnormalities. In conclusion, this study contributes with new data for genetic etiology in syndromic conditions of oral fissures.

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Keywords

chromosomes, craniofacial morphology, velocardiofacial syndrome, genetics

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