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Pedigree of the family with related affected males. Black boxes indicate intellectual deficiency due to ATRX gene mutation. The asterik means that the subject carrys the mutation (c. 6740A>C) within the ATRX gene. In generation (I), three subjects carried the mutation. In generation (II) the index case is indicated by the arrow (II 4) and both sisters (II-1 and II-2) were heterozygous II-3 is an in utero foetal death (seven months of pregnancy).
