PEN-HUA SUINN-CHI LEE2026-10-162026-10-162004-05-01Pure ID: 15262295Pure UUID: 5dde6ed0-03b1-4fa2-a264-42b1b5b74dcchttps://www.scopus.com/pages/publications/3543105529https://scholars.csmu.edu.tw/handle/123456789/33606Deletion (14) (q11.2q13.1) is a rare cytogenetic abnormality associated with severe neurological deficit, microcephaly and psychomotor retardation. We report a case of de novo interstitial deletion of chromosome (14) (q11.2q13.1) in an 8-month-old girl, who presented with marked microcephaly, a nearly closed anterior fontanelle, dysmorphic facies, severe neurological defects, and delayed developmental milestones. Three-dimensional computed tomography of the brain showed premature closure of the coronal suture and magnetic resonance imaging of the brain showed frontal atrophy and hypoplastic corpus callosum.3enjournal article