A case of distal partial trisomy of long arm in chromosome 13 resulting from the mother’s balanced translocation
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Abstract We report on an infant girl with trisomy 13 resulting from an inherited 13–15 Robertsonian translocation identified in a family from a small Spanish village of only 2,100 inhabitants. Both parents and several other relatives had a balanced 13–15 translocation.
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Robertsonian translocation
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Reciprocal
Metabolic disease
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Human genetics
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Psychomotor retardation
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Chromosome analysis
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Three patients with partial trisomy for the distal one half of the short arm of chromosome 9 were studied. These patients represent a mild clinical variant of the trisomy 9p syndrome.
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Partial Trisomy
Isochromosome
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