Abstract
A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description.
Copyright © 2012 Wiley Periodicals, Inc.
MeSH terms
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Abnormalities, Multiple / genetics*
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Agenesis of Corpus Callosum / genetics
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Arachnodactyly / genetics
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Chromosome Duplication / genetics*
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Chromosomes, Human, Pair 5 / genetics*
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Comparative Genomic Hybridization
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Congenital Abnormalities / genetics
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DNA Copy Number Variations
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Excitatory Amino Acid Transporter 1 / genetics*
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Genetic Testing / methods
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Humans
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Infant, Newborn
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Karyotype
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Kidney / abnormalities
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Kidney Diseases / congenital
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Kidney Diseases / genetics
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Male
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Muscle Hypotonia / genetics
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Phenotype
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Psychomotor Performance
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Retrognathia / genetics
Substances
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Excitatory Amino Acid Transporter 1
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SLC1A3 protein, human
Supplementary concepts
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Hereditary renal agenesis