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2017, Number 5

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Rev Med Inst Mex Seguro Soc 2017; 55 (5)

Atypical deletions in Williams-Beuren syndrome

Ramírez-Velazco A, Domínguez-Quezada MG

Language: Spanish
References: 42
Page: 615-620
PDF size: 373.28 Kb.


ABSTRACT

The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombination (NAHR) between low copy repeats present therein. The SWB phenotype is characterized by neonatal hypercalcemia, mental disability, distinctive personality and cognitive profile, short stature, dysmorphic facies, connective tissue disorders and supravalvular aortic stenosis. Ninety percent of the deletions are of 1.5 Mb, 8% of 1.84Mb, and only 2% are atypical. Although only ~ 40 atypical deletions have been described, they have contributed to clarify the genotype-phenotype correlation and allowed for a more integrative management. In this review we highlight the importance of detecting atypical deletions in patients with SWB.


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