Day

November 1, 2017

01
Nov

Potocki-Lupski Syndrome (PTLS)

Potocki-Lupski Syndrome (PTLS) is a disorder caused by a duplication of the 17p11.2 region of chromosome 17, including the RAI1 (Retinoic acid-induced protein 1) gene. Duplication of the RAI1 gene in particular is thought to be the key contributor to the symptoms of this disorder. These symptoms are vast and...
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01
Nov

Chromosome 10p15.3 deletion and neurological symptoms

Chromosome 10p15.3 is the most distal segment of 10p. The deletions within this area are characterized by developmental delay, motor skill delay, speech disorders, brain abnormalities, and seizures. Two genes within this region – ZMYND11 and DIP2C – are commonly deleted due to this condition, and loss of these is...
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