Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

• Main Authors: Paula Jorge (Author), Elsa Garcia (Author), Ana Gonçalves (Author), Isabel Marques (Author), Nuno Maia (Author), Bárbara Rodrigues (Author), Helena Santos (Author), Jacinta Fonseca (Author), Gabriela Soares (Author), Cecília Correia (Author), Margarida Reis-Lima (Author), Vincenzo Cirigliano (Author), Rosário Santos (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of w...