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fisura del paladar
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El síndrome de deleción 22q11 es la microdeleción cromosómica más frecuente, con una prevalencia de 1 en 3 a 6000 nacidos vivos. Se presentarán dos casos femeninos pediátricos con microdeleción en 22q11.2 por hibridación genómica con pérdida de 2.54 Mb y 3 Mb cada uno. Caso 1: 12 años, con convulsiones, rasgos dismórficos, CIA tipo Ostium secundum. Caso 2: 11 años, alteración palatina, hiperlaxitud, hipocalcemia asintomática y deficiencia de vitamina D. Ambos comparten rasgos dismórficos, retraso global del neurodesarrollo y cariotipo normal. Este estudio evidencia rasgos claves del síndrome que permite optimizar el diagnostico en futuros casos.Citas
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