title: Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly.
abstract: Deletion (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 deficits, 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.
authors.affiliation: Institute of Medicine, Chung Shan Medical University, No. 110 Chien-Kuo North Road, Section 1, Taichung 402, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Inn-Chi
authors.initials: IC
authors.lastname: Lee
authors.forename: Kao-Lun
authors.initials: KL
authors.lastname: Wang
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
authors.forename: Huei-Mei
authors.initials: HM
authors.lastname: Hung
authors.forename: Chih-Fang
authors.initials: CF
authors.lastname: Lee
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D013624:Taiwan