A Sotos syndrome case with in a t(3;6) (p21;p25) translocation carrier family

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Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, facial gestalt and developmental delay. The associated gene encodes nuclear receptor binding SET domain protein 1 (NSD1), whose mutations account for %80 of white patients. Majority of the cases are sporadic, though autosomal dominant pedigrees have been published. The prevalance of Sotos’s syndrome is estimated at 1:10,000 to 1:50,000. Overgrowth of the hands, feet and chin overlap with the clinical features of acromegaly. Here, we present a 15.5 year old boy who was being followed as acromegaly and sent to our clinics for determining the etiology of mental retardation. In chromosomal analyses, t(3;6)(p21;p25) was observed, the fully karyotype was diagnosed as 46, XY, t(3;6)(p21;p25). In his detailed familial chromosomal analyses, the same translocation was found in his father karyotype. As a result, Sotos syndrome should be in the differential diagnosis list of any patient who has acromegalic features accompanying mental retardation.

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Sotos syndrome , acromegaly , mental retardation , translocation carrier , macrocephaly

Cumhuriyet Medical Journal

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Cumhuriyet Medical Journal