Deniz TORUN, Rasim Özgür ROSTİ, Salih KOZAN, Şefik GÜRAN, Muhterem BAHÇE

t(3;6) (p21;p25) tranlokasyon taşıyıcısı ailede Sotos sendromlu bir olgu

Sotos sendromu; makrosefali, tipik yüz görünümü ve gelişim geriliği ile karakterize bir aşırı büyüme sendromudur. Sendromdan sorumlu gen nükleer reseptör bağlayıcı SET domain1 (NSD1) proteinini kodlar. Beyaz ırkta hastaların %80’inden fazlasında mutasyonları gösterilmiştir. Olguların çoğu sporadik olup, otozomal dominant kalıtım modeline uyan aileler bildirilmiştir. Sotos sendromunun prevalansı 1:10,000 ile 1:50,000 arasındadır. El, ayak ve çenedeki aşırı büyüme, klinik bulgu olarak akromegali ile karıştırılmaktadır. Burada, akromegali tanısıyla takipli olup mental retardasyon etiyolojisinin araştırılması için polikliniğimize yönlendirilen 15,5 yaşında bir erkek olgu sunulmaktadır. Olgunun kromozom analizinde 46, XY, t(3;6)(p21;p25) karyotipinde olduğu ve olguya ait aile taramasında ise transloke kromozomun paternal orijinli olduğu saptanmıştır. Sonuç olarak akromegali benzeri bulgular gösteren zeka geriliği bulunan olgularda ayırıcı tanıda Sotos sendromu mutlaka düşünülmelidir.

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

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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