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