Molecular and Genetic Medicine

Medical Genetic Service, Specialty Hospital No. 1 of the Armed Forces, Gran Colombia and Queseras del Medio av. No. 521, Quito, Ecuador

Publications

• Case Report   
  Schaaf-Yang Syndrome: An Example of Genomic Imprinting and Expanding Phenotype
  Author(s): LLamos-Paneque A*, Gómez-García Ariel O, Rivas-Iglesias C, Garzón- Castro M, Hernández-Iñiguez M and Recalde-Báez MA
  
  Schaf-Yang Syndrome is a rare genetic condition, produced by a mutation in the MAGEL2 gene, located at the level of chromosome 15, in the Prader-Willi Syndrome region, with which it shares some physical similarity. The phenotype is variable and ranges from fetal akinesia to an important neurobehavioral phenotype and contractures of the small finger joints that are very characteristic. The gene has a maternal imprint and the phenotype will only be expressed when the mutated allele has been transmitted parentally. We present the case of a 2-and-a-half-year-old male from Ecuador, whose most prominent signs were in the beginning a marked macroglossia that gave a certain rough facial appearance, as well as bilateral camptodactyly of the 3rd and 4th fingers. The history of a previous sister who died at age 8 with a diagnosis of hypothyroidism, and clinical similarity to this new baby, led t.. Read More»
  DOI: 10.37421/jmgm.2020.14.452

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