A microduplication at 17p11.2 results in the Potocki-Lupski Syndrome (PLS).


Clinical features of PLS:

(1) hypotonia during infancy

(2) poor feeding during infancy

(3) failure to thrive during infancy

(4) speech impairment with oral-pharyngeal dysphasia

(5) autistic spectrum disorder

(6) sleep apnea (both central and obstructive)

(7) structural cardiovascular abnormalities

(8) EEG abnormalities

(9) hypermetropia (farsightedness)

(10) developmental delay

(11) cognitive impairment

(12) communication and language disorders

(13) echolalia (repetition of words spoken to the patient)

(14) gastroesophageal reflux

(15) CNS abnormalities on MRI

(16) variable hypocholesterolemia


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