22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate. (January 2019)

• Record Type: Journal Article
• Authors: Carpeta, Suleima; Pineda, Tatiana; Martínez, Maria Claudia; Osorio, Gloria; Porras-Hurtado, Gloria Liliana; Rojas, Jorge; Zarante, Ignacio; Moreno-Niño, Olga María
• Is Part Of: Cleft palate-craniofacial journal. Volume 56:Number 1(2019)
• Page Start: 116
• Page End: 122
• Publication Date: 2019-01
• Subjects: chromosomes -- craniofacial morphology -- velocardiofacial syndrome -- genetics; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1177/1055665618770307
• Languages: English
• ISSNs: 1055-6656

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.