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Case Report



Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann.


Abstract

We present the rare case of a 5 year-old boy with developmental delay and microcephalus. Deletion of tumor suppressor candidate 3 gene (TUSC 3) on chromosome 8pwas found. It was localized in the gene region 8p22 with loss of 51,5 kb. The same deletion was found in the 31-years-old father, the mother was negative for this entity. The function of TUSC 3 gene is yet not completely known and this is one the first published cases in world literature.

Key words: Child, microcephaly, retardation, tumor suppressor candidate 3






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