Espectro clínico del síndrome de deleción 2q37. Un reporte de caso

Palabras clave: Síndrome de deleción 2q37, Fenotipo, Trastornos del espectro autista, Discapacidad intelectual, HDAC4

Resumen

El síndrome de deleción 2q37 es causado por una pérdida de material genético de uno de los dos cromosomas 2. Esta condición clínica presenta un espectro de manifestaciones muy variable que afecta diferente sistemas. Esta variabilidad en la presentación clínica puede convertir el diagnóstico en un reto. Nuestro objetivo es aportar a la caracterización del fenotipo de este síndrome, a través de un reporte de caso sobre una paciente cuyo resultado de hibridación genómica comparada (array CGH) reportó 3 variantes una deleción 2q32.2, una duplicación 5q14.1 y una deleción 2q37.3 de 5.472 Mb, las dos primeras de significado clínico incierto y la última descrita previamente en el síndrome de deleción 2q37. Dentro de las manifestaciones clínicas de esta paciente encontramos: talla baja, braquidactilia, hipotonía, dismorfismo craneofacial y trastorno del espectro autista. En algunos individuos, el síndrome de deleción 2q37 resulta de reordenamientos cromosómicos en esta región y el gen HDAC4 se ha propuesto como causante de la mayoría de las características fenotípicas del síndrome, pero otros genes involucrados también se describen. El tratamiento es multidisciplinario y requiere de asesoramiento genético.

 

ABSTRACT

T2q37 deletion syndrome is caused by a loss of genetic material from one of the two chromosomes 2. This clinical condition presents a spectrum of manifestations that includes craniofacial dysmorphisms, brachydactyly, short stature, obesity, and behavioral disorders, often associated with autism spectrum disorders. This variability in clinical presentation can make diagnosis challenging. Our objective is to contribute to the characterization of the phenotype of this syndrome, through a case report on a patient whose result of comparative genomic hybridization (CGH array) reported 3 variants: a 2q32.2 deletion, a 5q14.1 duplication and a 2q37.3 deletion of 5,472 Mb, the first two of uncertain clinical significance and the last one previously described in 2q37 deletion syndrome. Among the clinical manifestations of this patient we find: short stature, brachydactyly, hypotonia, craniofacial dysmorphism and autism spectrum disorder. In some individuals, 2q37 deletion syndrome results from chromosomal rearrangements in this region, and the HDAC4 gene has been proposed to cause most of the phenotypic features of this syndrome, but other genes involved are also described. Treatment is multidisciplinary and requires genetic counseling.

 

Key words: 2q37 deletion syndrome, phenotype, autism spectrum disorders, intellectual disability, HDAC4.

Biografía del autor/a

Valeria Valencia-Cifuentes, Pontificia Universidad Javeriana Cali

Médica

Suad Siuffi-Campo, Pontifica Universidad Javeriana Cali

Médica

Paula Margarita Hurtado-Villa, Pontificia Universidad Javeriana de Cali

Médica, Especialista en Genética Médica,  Es-pecialista en Bioética, Profesora Departamento de Ciencias Básicas de la Salud.

Lina Vanessa Becerra-Hernández, Pontificia Universidad Javeriana de Cali

Médica,  Magíster  en  Ciencias  Biomédicas,  Doctora  en  Ciencias  Biomédicas,  Profesora  Departamento de Ciencias Básicas de la Salud.

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Publicado
2021-09-04
Cómo citar
Valencia-Cifuentes, V., Siuffi-Campo, S., Hurtado-Villa, P., & Becerra-Hernández, L. (2021). Espectro clínico del síndrome de deleción 2q37. Un reporte de caso. Salutem Scientia Spiritus, 7(3), 81-86. Recuperado a partir de https://revistas.javerianacali.edu.co/index.php/salutemscientiaspiritus/article/view/2422