Potocki-Lupski syndrome
January 19 2016
OVEREXPRESSION OF RAI1 Recommended panel testing at Breda Genetics for this condition: MLPA analysis – RAI1 gene (TAT: 15 days); aCGH (TAT: 6 weeks); EXOME D (TAT: 4 weeks). Reciprocal to Smith-Magenis syndrome Potocki-Lupski syndrome (PTLS – OMIM 610883), also known as chromosome 17p11.2 duplication syndrome, is a developmental disorder characterized by hypotonia, failure to thrive, pervasive
