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Updated: Jan 21, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism
Francisco Cammarata-Scalisi1, Raquel Blanco Lago2, Pilar Barruz Galián3
1Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Facultad de Medicina, Universidad de Los Andes, Mérida, Venezuela. francocammarata19@gmail.com.
Abstract:
Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16.3), which produces a series of clinical manifestations that can vary depending on the type and size of the genetic defect in this contiguous gene syndrome. Five patients are presented, three of them female, all with the primary clinical findings, characterized by "Greek warrior helmet appearance" facial feature, growth retardation and psychomotor development delay. In addition to the partial deletion in the distal region of the short arm of chromosome 4, two additional genetic alterations were found in two patients, through the use of single nucleotide polymorphism arrays. The clinical characteristics of Wolf-Hirschhorn syndrome are highlighted in order to guide the diagnosis, provide interdisciplinary medical care and, through its confirmation, provide adequate family genetic counseling.
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