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15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.
Ortiz-Prado, Esteban; Iturralde, Ana Lucía; Simbaña-Rivera, Katherine; Gómez-Barreno, Lenin; Hidalgo, Iván; Rubio-Neira, Mario; Espinosa, Nicolás; Izquierdo-Condoy, Juan; Arteaga-Espinosa, María Emilia; Lister, Alex; López-Cortés, Andrés; Cabrera-Andrade, Alejandro.
Afiliação
  • Ortiz-Prado E; One Health Research Group, Faculty of Medicine, Universidad de Las Americas, Quito, Ecuador.
  • Iturralde AL; One Health Research Group, Faculty of Medicine, Universidad de Las Americas, Quito, Ecuador.
  • Simbaña-Rivera K; One Health Research Group, Faculty of Medicine, Universidad de Las Americas, Quito, Ecuador.
  • Gómez-Barreno L; One Health Research Group, Faculty of Medicine, Universidad de Las Americas, Quito, Ecuador.
  • Hidalgo I; Pediatrics Department, Hospital Metropolitano, Quito, Ecuador.
  • Rubio-Neira M; Pediatrics Department, Hospital Baca Ortiz, Quito, Ecuador.
  • Espinosa N; Department of Pediatric Neurology, Hospital Metropolitano, Quito, Ecuador.
  • Izquierdo-Condoy J; Rural Community Health Service, Ministry of Public Health, Quito, Ecuador.
  • Arteaga-Espinosa ME; Genetics Department, Gynemedic, Mexico City, Mexico.
  • Lister A; University of Southampton, Southampton, UK.
  • López-Cortés A; Centro de Investigación Genética y Genómica, Facultad de Ciencias de La Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.
  • Cabrera-Andrade A; Red Latinoamericana de Implementación y Validación de Guías Clínicas Farmacogenómicas (RELIVAF-CYTED), Quito, Ecuador.
Case Rep Med ; 2021: 6662054, 2021.
Article em En | MEDLINE | ID: mdl-34007283
BACKGROUND: The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Region (PWACR) of the referred 15q11.2-q13.1 chromosome. Case Report. Our study presents the clinical and genetical features of the first patient with a denovo 15q11.2 interstitial duplication on the maternal allele (inv Dup15q) that mimics a milder Prader-Willi syndrome probably due to an atypical disruption of the SNHG14 gene. Methylation-specific MLPA analysis has confirmed the presence of a very unlikely duplication that lies between breakpoint 1 (BP1) and the middle of BP2 and BP3 (BP3). This atypical alteration might be linked to the milder patient's clinical phenotype. CONCLUSIONS: This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene SNHG14 which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient's clinical phenotype.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE País/Região como assunto: America do sul / Ecuador Idioma: En Revista: Case Rep Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Equador País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE País/Região como assunto: America do sul / Ecuador Idioma: En Revista: Case Rep Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Equador País de publicação: Estados Unidos