Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly.
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.
Su
Pen-Hua
PH
Institute of Medicine, Chung Shan Medical University, No. 110 Chien-Kuo North Road, Section 1, Taichung 402, Taiwan.
Chen
Suh-Jen
SJ
Lee
Inn-Chi
IC
Wang
Kao-Lun
KL
Chen
Jia-Yuh
JY
Hung
Huei-Mei
HM
Lee
Chih-Fang
CF
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