Article
Mosaic cri-du-chat syndrome in a girl with a mild phenotype.
Journal of applied genetics - 1 Jan 2008
Moreira Lilia Maria de Azevedo, de Carvalho Acácia Fernandes Lacerda, Borja Ana Lúcia Vieira de Freitas, Pinto Paula Sanders Pereira, Silveira Adriana, de Freitas Lucy Magalhães, Falcão Maria de Lourdes Lima
Abstract excerpt
We report on the clinical observation of a girl patient with few signs of cri-du-chat syndrome. The chromosomal analysis in lymphocyte culture showed 46,XX,del(5)(p15.3) in 38% of cells. Psychological tests revealed motor, perceptive and visual-spatial problems, as well as immaturity and emotional dependence. The phoniatric evaluation showed poor vocabulary, difficulty with repeating words or numbers in sequence,...
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