title: [Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype].
abstract: Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization.
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras, Universidad Icesi, Cali, Colombia. hmpachajoa@icesi.edu.co.|Fundación Valle del Lili, Cali, Colombia.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D010641:Phenotype
keywords: 18p syndrome; Chromosome 18; Chromosome deletion