Background:

Sotos syndrome is an inherited disease characterized by pre- and postnatal overgrowth with advanced bone age, characteristic facies, and developmental delay.

Case report:

We report the case of a patient with Sotos syndrome and clinical manifestations not described previously, who was diagnosed comparative genomic hybridization arrangements (CGH array). The duplication of a gene and the deletion of 43 genes were identified, among which is the NSD1 gene, associated with Sotos syndrome. The gain and loss of these other genes may explain the atypical characteristics present in the patient.

Conclusions:

Due to its atypical characteristics, the CGH array was a useful tool for diagnosis. The chromosomal alterations found in this patient demonstrate the clinical heterogeneity of genomic diseases.