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

• Main Authors: Maiara A. Floriani (Author), Marcelo R. Vilas Boas (Author), Rafael Fabiano M. Rosa (Author), Patrícia Trevisan (Author), Luiza Emy Dorfman (Author), Rosana C. M. Rosa (Author), Tatiana D. Zen (Author), Paulo Ricardo G. Zen (Author)
• Format: Book
• Published: Sociedade Brasileira de Patologia Clínica, 2017-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 Gie...