ICNC Abstracts, ICNC 2018

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Cerebral infarction, growth retardation and severe intellectual disability in Korean patients with de novo duplication of 14q32.2
Ji Yoon Han, In Goo Lee

Last modified: 2018-09-09


case1: A 14-year-old female presented with acute left arm weakness. She was diagnosed with growth retardation and severe intellectual disability. Her eight was 99cm (< 3 percentile), weight was 14kg (< 3 percentile), and head circumstance was 51cm (< 3 percentile). At the age of 14 years he had severe ID (intelligence quotient 40). She showed a dysmorphic face including a frontal bossing, widely spaced teeth, broad upper alveolar ridges, broad mouth, downturned corners of the mouth, broad nasal root, and deep nasal bridge. She showed sparse hair, eyelashes, and eyebrow. On physical examination, cardiac sound auscultated high-pitched, early diastolic decrescendo murmur heard best at the 3rd intercostal space on the left. Brain magnetic resonance imaging (MRI) revealed acute infarction in right striatocapsular region and some cortical areas of right temporal lobe. MR angiography showed that M1 of middle cerebral artery (MCA) was occluded and distal MCA retrograde filled by leptomeningeal collaterals. A thoracic and transesophageal echocardiogram revealed severe aortic regurgitation (AR) with mild aortic stenosis (AS) and dilated ascending aorta.

case2: He had shown left hemiparesis after the birth and left arm weakness was remained. At 19 years old, he weighted 25kg (< 3rd percentile) and was 119cm tall (<3rd percentile). Brain MRI showed dysgenesis of corpus callosum and right hemisphere was abnormally smaller than the other.

The karyotype, defined following International System of Chromosome Nomencalture 2013, was der(14)t(14;14)(p11.2;q32.1). A genomic microarray performed and identified 17Mb duplication on chromosome 14q arm from nt 90,043,558 (14q32.11) to nt 107,258,824 (14q32.33).


Epilepsy; Growth retardation; 14q32.2

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