Kozan, Salih Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Torun, Deniz Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Bahçe, Muhterem Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Güran, Şefik Gülhane Askeri Tıp Akademisi - Tıbbi Biyoloji Anabilim Dalı, Turkey

A marker chromosome in a case with mental motor retardation and correlation with the clinical findings

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Mental retardation is a complex clinical entity diagnosed in early age period with motor retardation in some cases. Mental retardation affects about 1-3% of the population. Several etiologic factors may cause the mental retardation, but in one/forth of them, the etiologic factors can be explained. Here we presented a three year old female case with dysmorphic face findings that had speech/learning disability, walking problems because of stereotypic movements, nervousness. In cytogenetic analyses, an extra marker chromosome had been observed which was absent in her parents. In the literature, the origin of such marker chromosomes had been reported with chromosome 15 and X. No relationship was observed between our marker chromosome and chromosome 15 or X in fluorescence in situ hybridization analyses by using centromeric probes in our case. Genetic diseases may cause mental motor retardation. In some cases, chromosomal abnormalities can bee seen. Despite of these findings, the clinical diagnosis of our case and the origin of this extra marker chromosome have still been obscure. Consequently, the clinical abnormalities observed in our case may be correlated with this extra chromosome obtained in cytogenetic analyses. As a result, our case represents the importance of the genetic tests in mental motor retardation history.

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Mental motor retardation , marker chromosome , mental retardation , dysmorphology , FISH analyses.

Cumhuriyet Medical Journal

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