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Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
Nascimento, Gustavo R; Pinto, Irene P; de Melo, Aldaires V; da Cruz, Damiana M; Ribeiro, Cristiano L; da Silva, Claudio C; da Cruz, Aparecido D; Minasi, Lysa B.
Afiliación
  • Nascimento GR; Departamento de Biologia, Núcleo de Pesquisas Replicon, Goiânia, Brazil.
  • Pinto IP; Programa de Pós-Graduação em Genética, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
  • de Melo AV; Departamento de Biologia, Núcleo de Pesquisas Replicon, Goiânia, Brazil.
  • da Cruz DM; Programa de Pós-Graduação em Biotecnologia e Biodiversidade, Universidade Federal de Goiás, Goiânia, Brazil.
  • Ribeiro CL; Departamento de Biologia, Núcleo de Pesquisas Replicon, Goiânia, Brazil.
  • da Silva CC; Programa de Pós-Graduação em Biotecnologia e Biodiversidade, Universidade Federal de Goiás, Goiânia, Brazil.
  • da Cruz AD; Departamento de Biologia, Núcleo de Pesquisas Replicon, Goiânia, Brazil.
  • Minasi LB; Departamento de Biologia, Núcleo de Pesquisas Replicon, Goiânia, Brazil.
Mol Syndromol ; 8(3): 155-160, 2017 May.
Article en En | MEDLINE | ID: mdl-28588437
Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are characterized by intellectual disability, hypotonia, a friendly behavior, distinctive facial features, and epilepsy. Herein, we report a case of 2 girls who revealed global developmental delay, mild facial dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21.31 microdeletion detected by chromosomal microarray analysis (CMA). Conventional cytogenetics analysis by GTG-banding showed a female karyotype 46,XX for both girls. CMA revealed a microdeletion spanning approximately 500 kb in 17q21.31 in both girls, encompassing the following genes: CRHR1, MGC57346, CRHR1-IT1, MAPT-AS1, SPPL2C, MAPT, MAPT-IT1, STH, and KANSL1. Haploinsufficiency of one or more of these genes within the deleted region is the most probable cause of the probands' phenotype and is responsible for the phenotype seen in KDVS. CMA is a powerful diagnostic tool and an effective method to identify the de novo 17q21.31 microdeletion associated with KDVS in our probands.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE País/Región como asunto: America do sul / Brasil Idioma: En Revista: Mol Syndromol Año: 2017 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE País/Región como asunto: America do sul / Brasil Idioma: En Revista: Mol Syndromol Año: 2017 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza