Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. - Faletra, Flavio; d'Adamo, Adamo Pio; Santa Rocca, Maria; Carrozzi, Marco; Perrone, Maria Dolores; Pecile, Vanna; Gasparini, Paolo (Am J Med Genet A, 2012)
Keywords: Chromosome Breakpoints; Chromosome Duplication; Chromosomes, Human, X; Hand Deformities, Congenital; Humans; Intellectual Disability; Karyotyping; Muscle Hypotonia; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatases