Potocki-Lupski syndrome

info · Genetic

A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.

Signs and symptoms

Echolalia
Language impairment
Hearing impairment
Mild intellectual disability
Short stature
Trigonocephaly
Seizure
Gastroesophageal reflux
Generalized hypotonia
Aphasia

Also known as: 17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome; trisomy 17p11.2