X-Linked Mental Retardation: A Case Report

Year 2007, Volume: 12 Issue: 2, 135 - 136, 01.04.2007

Haluk Akın Hüseyin Yüce İbrahim Tekedereli

Abstract

The patient is 14 years old male patient with mental retardation, gynecomastia and obesity. Borjeson-Forssman- Lehmann syndrome presumed after the clinical and laboratory studies. Given the ease of expression of X-linked disorders in hemizygous males, the X-chromosome has become an obvious focus for beginning to map and identify genes for syndromal and nonspecific mental retardation. ©2007, Firat University, Medical Faculty

Keywords

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X'e Bağlı Mental Retardasyon: Bir Olgu

Abstract

Mental retardasyon, jinekomasti ve obesitesi olan 14 yaşındaki erkek hastanın yapılan tetkik ve muayenesi sonucu Borjeson-Forssman- Lehmann sendromu ön tanısı kondu. X'e bağlı hastalıkların, erkeklerin hemizigot olması nedeniyle X kromozomu sendromik veya non sendromik mental retardasyon genlerinin belirlenmesi ve haritalanması için açık bir lokus haline gelmiştir. ©2007, Fırat Üniversitesi, Tıp Fakültesi

Keywords

X’e bağlı mental retardasyon, obezite, jinekomasti

References

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• Kabul Tarihi: 03.10.2006