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17q21.31 microduplication syndrome
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17q21.31 microduplication syndrome
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<h1><span lang=''><a name='skipnav'></a>17q21.31 microduplication syndrome</span></h1><div id='disease-idcard'>
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<td class='title'>Orpha number</td>
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<td><1 / 1 000 000</td>
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<td>-</td>
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<h2>Summary</h2><p>17q21.31 microduplication syndrome is a newly described syndrome associated with a very variable phenotype, of which behavioural problems and poor social interaction seem to be the most consistent. Only 5 patients have been reported. All of them have behavioural problems suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. This microduplication syndrome was identified by comparative genomic hybridisation (CGH) microarray. It seems reasonable to postulate that the underlying mechanism is non-allelic homologous recombination (NAHR). Moreover, an inversion within 17q21.31, present in the Western European population at a frequency of 20%, was shown to be closely associated with the rearrangement. Parental origin was investigated for 3 patients. In all cases duplication was of maternal origin. *Author: Orphanet (February 2010)*.</p></div>
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