SNP Shot: Genomic Insights

Potocki-Lupski syndrome arises from a duplicated segment of chromosome 17 in each cell. Specifically, this duplication is located on the short arm (p) of chromosome 17 at position p11.2. It is also known as 17p11.2 duplication syndrome.

Infants with Potocki-Lupski syndrome often exhibit low muscle tone (hypotonia) and difficulty swallowing (dysphagia), leading to feeding issues. Some infants experience failure to thrive, meaning they don't grow or gain weight as expected. Children with the condition tend to be shorter and weigh less compared to their peers. Approximately 40% of infants with Potocki-Lupski syndrome are born with heart defects, which can be life-threatening in some instances.

Developmental delays are common in babies and children with Potocki-Lupski syndrome, particularly in speech, language, and gross motor skills such as sitting, standing, and walking. As individuals age, they often have mild to moderate intellectual disability and persistent speech difficulties. Behavioral issues are also associated with the syndrome, including attention deficits, hyperactivity, compulsive or impulsive behaviors, and anxiety. A significant portion of individuals with Potocki-Lupski syndrome display characteristics consistent with autism spectrum disorder, affecting social interaction and communication skills.

Other potential signs and symptoms of Potocki-Lupski syndrome include vision and hearing impairments, dental and skeletal abnormalities, and issues with kidney development and function. Many affected individuals experience sleep disturbances, such as sleep apnea (brief pauses in breathing during sleep) and difficulty initiating or maintaining sleep. Subtle facial differences may also be present, including downward-sloping eyes (down-slanting palpebral fissures), a triangular face shape with a broad forehead and small jaw (micrognathia), and widely spaced eyes (hypertelorism).

Inheritance:

Potocki-Lupski syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the duplicated 17p11.2 region in each cell is enough to cause the condition. In most instances, Potocki-Lupski syndrome occurs due to a new (de novo) duplication, meaning it appears spontaneously in individuals with no family history of the disorder. Less frequently, the duplication is inherited from a parent who also has the condition.