Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 Andrea H. Németh, Elena.

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Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 Andrea H. Németh, Elena Bochukova, Eimear Dunne, Susan M. Huson, John Elston, Mohammed A. Hannan, Matthew Jackson, Cyril J. Chapman, A. Malcolm R. Taylor The American Journal of Human Genetics Volume 67, Issue 5, Pages 1320-1326 (November 2000) DOI: 10.1016/S0002-9297(07)62962-0 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree with AOA, showing haplotypes along 9q34. Boxes around haplotypes indicate regions of homozygosity by descent in affected individuals. Arrows indicate meiotic recombination events. The American Journal of Human Genetics 2000 67, 1320-1326DOI: (10.1016/S0002-9297(07)62962-0) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Expression of ATM, hRad50, Nbs1, and hMRE11 in patient II:5. The American Journal of Human Genetics 2000 67, 1320-1326DOI: (10.1016/S0002-9297(07)62962-0) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Multipoint location score in family with AOA The American Journal of Human Genetics 2000 67, 1320-1326DOI: (10.1016/S0002-9297(07)62962-0) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Ideogram of 9q34, illustrating the location of markers, approximate genetic distances, and overlap between the AOA locus and the Joubert syndrome locus. The American Journal of Human Genetics 2000 67, 1320-1326DOI: (10.1016/S0002-9297(07)62962-0) Copyright © 2000 The American Society of Human Genetics Terms and Conditions