Abstract
In a 2-year-old boy with severe psychomotor developmental delay and a dysmorphic face, a chromosome study revealed a balanced translocation: 46XY,t-(1;3)(p31.2;p21). With magnetic resonance angiography, bilateral internal carotid artery agenesis was diagnosed. Periventricular high-intensity areas were evident on T2-weighted imaging, but no major cerebral malformation was observed.
MeSH terms
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Abnormalities, Multiple / genetics*
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Carotid Artery, Internal / abnormalities*
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Chromosomes, Human, Pair 1 / ultrastructure*
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Chromosomes, Human, Pair 3 / ultrastructure*
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Ductus Arteriosus, Patent / genetics
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Face / abnormalities
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Humans
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Infant, Newborn
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Intellectual Disability / genetics*
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Magnetic Resonance Angiography
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Male
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Muscle Hypotonia / genetics
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Translocation, Genetic*