SciELO - Scientific Electronic Library Online

vol.79 issue1Physiological changes of walking rotation during developmentEvaluation of the interobserver concordance in pediatric research: the Kappa Coefficient author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Revista chilena de pediatría

Print version ISSN 0370-4106


AVINA F, JORGE A; A, DANIEL  and  HERNANDEZ, A. Wolf-Hirschhorn Syndrome: distal microdeletion of chromosome 4 short arm. Rev. chil. pediatr. [online]. 2008, vol.79, n.1, pp.50-53. ISSN 0370-4106.

Background: Wolf-Hirschhorn Syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. The clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. Objetive: Describe a clinical case of Wolf-Hirschhorn Syndrome, with specific description of craniofacial dysmorphological features. Case report: A female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. Conclusions: The fluorescence in situ hybridization (FISH) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4pl5 confirming the diagnosis. A case of probable de novo mutation with deletion of gene WHSC1 and other linked contiguous genes

Keywords : Wolf-Hirschhorn Syndrome; chromosomal microdeletion.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License