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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, METHODS, RESULTS. Meshes: Chromosome Mapping, Chromosomes, Human, Pair 11, France, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Intellectual Disability, Male, Middle Aged, Muscle Spasticity, Optic Atrophy, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Spinocerebellar Ataxias, Trisomy.
user
Is a 7.5-Mb duplication at chromosome 11q21-11q22.3 associated with a novel spastic ataxia syndrome? Context: The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20. We applied single-nucleotide polymorphism (SNP) genotyping to determine whether structural variation causes spinocerebellar ataxia in a family from France. We identified an approximately 7.5-megabasepair duplication on chromosome 11q21-11q22.3 that segregates with disease. This duplication contains an estimated 44 genes. Duplications at this locus were not found in control individuals.
assistant
We have identified a new spastic ataxia syndrome caused by a genomic duplication, which we have denoted as spinocerebellar ataxia type 39. Finding additional families with this phenotype will be important to identify the genetic lesion underlying disease. Final Decision: yes