Síndrome deleción de 22q11.2: a propósito de dos casos

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Publicado: sept. 25, 2023
DOI: https://doi.org/10.21676/2389783X.5365
Palabras clave:
síndrome de deleción 22q11, fisura del paladar, discapacidad intelectual

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María Camila Gutiérrez-Vargas
Universidad Surcolombiana
Henry Ostos-Alfonso
Universidad Surcolombiana, Hospital Universitario Hernando Moncaleano Perdomo

Resumen

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.

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Gutiérrez-Vargas, M. C., & Ostos-Alfonso, H. . (2023). Síndrome deleción de 22q11.2: a propósito de dos casos. Duazary, 20(3), 224–230. https://doi.org/10.21676/2389783X.5365
Número
Vol. 20 Núm. 3 (2023): (julio - septiembre)
Sección
Presentación de casos clínicos
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