Jacobsen syndrome

Also known as Partial 11Q Monosomy Syndrome, JBS, Distal monosomy 11q, Chromosome 11Q Deletion Syndrome, Distal deletion 11q, Monosomy 11qter, JACOBSEN SYNDROME; JBS

multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.