title: [Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization].
abstract: The Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is a hereditary multisystemic disease part of the group of contiguous gene deletion syndromes. The cause of this syndrome is a heterozygous deletion that involves the chromosomal region 8q23.3-q24.11 and mainly affects genes TRPS1, RAD21, and EXT1. This syndrome is characterized by the presence of multiple osteochondromas in limbs, hypertrichosis, and facial phenotype that includes sparse scalp hair, large laterally protruding ears, a long nose with a bulbous tip. We report the case of a Colombian patient with finding of an 8q23.1-q24.12 deletion by comparative genomic hybridization array technique and classical clinical findings, being the first case reported in Colombia.
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Facultad de Salud, Universidad Icesi, Cali, Colombia. Fruiz@icesi.edu.co.
authors.forename: Felipe
authors.initials: F
authors.lastname: Ruiz-Botero
authors.affiliation: Fundación Clínica Valle del Lili, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Facultad de Salud, Universidad Icesi, Cali, Colombia.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D002648:Child; D003105:Colombia; D055028:Comparative Genomic Hybridization; D017353:Gene Deletion; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010641:Phenotype
keywords: Langer-Giedion syndrome; Multiple exostoses; Trichorhinophalangeal syndrome type II