Abstract
This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.
MeSH terms
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Abnormalities, Multiple*
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Agenesis of Corpus Callosum
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Blood Group Antigens / analysis
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Child
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Chromosome Aberrations*
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Chromosome Disorders*
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Chromosomes, Human, 19-20*
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Chromosomes, Human, 6-12 and X*
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Dermatoglyphics
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Female
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Humans
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Immunogenetics
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Intellectual Disability
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Karyotyping
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Lymphocytes / ultrastructure
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Phenotype
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Translocation, Genetic*