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• W2071724105 abstract "Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic homologous recombination between low copy repeats flanking this critical region. However, the clinical phenotype associated with reciprocal microduplication of this genomic region is less well described. We investigated the molecular, clinical, neurodevelopmental, and behavioral features of seven patients with dup(7)(q11.23), including two children who inherited the microduplication from one of their parents, to more fully characterize this emerging microduplication syndrome. Patients were identified by array-based comparative genomic hybridization. Clinical examinations were performed on seven affected probands, and detailed cognitive and behavioral evaluations were carried out on four of the affected probands. Our findings confirm initial reports of speech delay seen in patients with dup(7)(q11.23) and further delineate and expand the phenotypic spectrum of this condition to include communication, social interactions, and repetitive interests that are often observed in individuals diagnosed with autism spectrum disorders. Array-based comparative genomic hybridization is a powerful means of detecting genomic imbalances and identifying molecular etiologies in the clinic setting, including genomic disorders such as Williams-Beuren syndrome and dup(7)(q11.23). We propose that dup(7)(q11.23) syndrome may be as frequent as Williams-Beuren syndrome and a previously unrecognized cause of language delay and behavioral abnormalities. Indeed, these individuals may first be referred for evaluation of autism, even if they do not ultimately meet diagnostic criteria for an autism spectrum disorder." @default.
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• W2071724105 date "2007-07-01" @default.
• W2071724105 modified "2023-10-12" @default.
• W2071724105 title "Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region" @default.
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• W2071724105 cites W1970687210 @default.
• W2071724105 cites W1973387221 @default.
• W2071724105 cites W1981147791 @default.
• W2071724105 cites W1984963903 @default.
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• W2071724105 cites W1987342312 @default.
• W2071724105 cites W1989030221 @default.
• W2071724105 cites W1992752077 @default.
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• W2071724105 cites W2002461352 @default.
• W2071724105 cites W2002969945 @default.
• W2071724105 cites W2006455155 @default.
• W2071724105 cites W2007364430 @default.
• W2071724105 cites W2008066163 @default.
• W2071724105 cites W201454919 @default.
• W2071724105 cites W2022467875 @default.
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• W2071724105 cites W2028363992 @default.
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• W2071724105 cites W2038559435 @default.
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• W2071724105 cites W2045040686 @default.
• W2071724105 cites W2049654079 @default.
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• W2071724105 cites W2076388300 @default.
• W2071724105 cites W2079693422 @default.
• W2071724105 cites W2086303700 @default.
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• W2071724105 cites W2104097622 @default.
• W2071724105 cites W2106982327 @default.
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• W2071724105 cites W2142701631 @default.
• W2071724105 cites W2146948473 @default.
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• W2071724105 doi "https://doi.org/10.1097/gim.0b013e3180986192" @default.
• W2071724105 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17666889" @default.
• W2071724105 hasPublicationYear "2007" @default.
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