Article
Duplication 9p and their implication to phenotype.
BMC medical genetics - 20 Dec 2014
Guilherme Roberta Santos, Meloni Vera Ayres, Perez Ana Beatriz Alvarez, Pilla Ana Luiza, de Ramos Marco Antonio Paula, Dantas Anelisa Gollo, Takeno Sylvia Satomi, Kulikowski Leslie Domenici, Melaragno Maria Isabel
Abstract excerpt
BACKGROUND: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations. METHODS: The rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization...
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