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

• Главные авторы: Paula Jorge (Автор), Elsa Garcia (Автор), Ana Gonçalves (Автор), Isabel Marques (Автор), Nuno Maia (Автор), Bárbara Rodrigues (Автор), Helena Santos (Автор), Jacinta Fonseca (Автор), Gabriela Soares (Автор), Cecília Correia (Автор), Margarida Reis-Lima (Автор), Vincenzo Cirigliano (Автор), Rosário Santos (Автор)
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• Опубликовано: BMC, 2018-05-01T00:00:00Z.
• Предметы: article
• Online-ссылка: 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...