Summary Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems), or nonsyndromic (no other visible abnormalities of the external ear or any related medical problem); and prelingual (before language develops) or
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
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