Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis

• Autor(a) principal: Floriani,Maiara A.
• Data de Publicação: 2017
• Outros Autores: Boas,Marcelo R. Vilas, Rosa,Rafael Fabiano M., Trevisan,Patrícia, Dorfman,Luiza Emy, Rosa,Rosana C. M., Zen,Tatiana D., Zen,Paulo Ricardo G.
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000200108
• topic: karyotype; fragile X syndrome; intellectual disability; chromosomal fragile sites

ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses of patients with history of developmental delay.