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Deleciones atípicas en el síndrome Williams-Beuren
Resumen
El síndrome Williams-Beuren (SWB; OMIM 194050) es un trastorno multisistémico autosómico dominante que ocurre en ~ 1 de cada 20 000 nacidos vivos, y se debe a una deleción en 7q11.23 de ~ 28 genes. Esta deleción resulta de una recombinación homóloga no alélica entre repeticiones de bajo número de copias presentes en dicha región. El fenotipo SWB se caracteriza por hipercalcemia neonatal, discapacidad mental, personalidad y perfil cognitivo distintivos, baja estatura, facies dismórficas, trastornos del tejido conectivo y estenosis aórtica supravalvular. El 90% de las deleciones son de 1.5 Mb, 8% de 1.84 Mb, y solo el 2% son atípicas. Aunque solo se han descrito ~ 40 deleciones atípicas, estas han contribuido a esclarecer la correlación genotipo-fenotipo y permitido un manejo integral. En esta revisión se destaca la importancia de la detección de deleciones atípicas en pacientes con SWB.
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Referencias
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