Hernández-Gómez M, Meléndez-Hernández R, Ramírez-Arroyo E, Mayén-Molina DG

Language: Spanish
References: 12
Page: 42-51
PDF size: 820.13 Kb.

ABSTRACT

Phelan-McDermid syndrome is a neurodevelopmental disorder, also called 22q13.3 deletion syndrome, resulting in the loss of function of the gene SHANK3. It is characterized by severe neonatal hypotonia, global developmental delay, sever speech delays or absence of language and minor dysmorphic features. 80% of cases are de novo, although their prevalence is unknown, approximately 1200 cases have been described around the world. It is a frequent cause of autism spectrum disorder and intellectual disability, contributing 0.5 to 2% of all cases. Microarray is the study of choice with conventional citogenetics. In this report we present one case of Phelan-McDermid syndrome, with highly suggestive clinical data at a very early age who was diagnosed until 4 years of age. It is a de novo case, due to a deletion of 4.3 Mb resulting from the formation of a chromosomal ring. We believe that by disseminating this case, we will contribute to the disclosure of this entity, which may allow, together with the current diagnostic technology, that patients and their families benefit from a faster, timely diagnosis and a better follow-up.

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