Abstract:Submicroscopic deletions in chromosome 19 have been rarely reported. The aim of this study was to describe the genotype-phenotype correlation of a 19p13.11-p13.12 deletion. A male patient was referred for genetic evaluation by presenting neurodevelopmental delay and facial dysmorphisms. He is the first child of non-consanguineous parents. Pregnancy and delivery were uneventful. Anthropometrical data at seven-year-old were weight 25,4 kg (p75), length 120 cm (p50) and head circumference 47,3 cm (< -2SD). I… Show more
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