Article
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
The Journal of pediatrics - 1 Jan 2023
Montenegro Marília Moreira, Camilotti Débora, Quaio Caio Robledo D'Anglioli Costa, Gasparini Yanca, Zanardo Évelin Aline, Rangel-Santos Andreia, Novo-Filho Gil Monteiro, Francisco Gleyson, Liro Lucas, Nascimento Amom, Chehimi Samar Nasser, Soares Diogo Cordeiro Queiroz, Krepischi Ana C V, Grassi Marcília Sierro, Honjo Rachel Sayuri, Palmeira Patricia, Kim Chong Ae, Carneiro-Sampaio Magda Maria Sales, Rosenberg Carla, Kulikowski Leslie Domenici
Abstract excerpt
OBJECTIVE: To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS. STUDY DESIGN: This report is part of a previous study that aims to provide a precocious molecular diagnosis of the 22q11.2 deletion syndrome in 118 infants with congenital heart disease. To...
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