Article
Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina.
Archivos argentinos de pediatria - 1 Oct 2013
Del Carmen Montes Cecilia, Sturich Alicia, Chaves Alejandra, Juaneda Ernesto, Orellana Julio, De Rossi Roberto, Pereyra Blanca, Alday Luis, Rossi Norma Teresa
Abstract excerpt
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other...
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