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Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis.

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Presentation on theme: "Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis."— Presentation transcript:

1 Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy  Marco Seri, Roberto Cusano, Paola Forabosco, Roberta Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, Carla Borrone, Giovanni Romeo, Marcella Devoto  The American Journal of Human Genetics  Volume 64, Issue 2, Pages (February 1999) DOI: /302241 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2 Figure 1 The pedigree of the family with haplotype reconstruction for informative markers on 10q23.3-q24.2. The “at-risk” haplotype is boxed. Arrows indicate the boundaries of the critical interval identified. The LOD score values at θ=0 for the different markers are reported. The American Journal of Human Genetics  , DOI: ( /302241) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Schematic representation of the chromosomal region 10q23.3-q24.2, to which the syndrome described in the present study has been assigned. The overlapping of the critical interval with the regions to which other disorders have been mapped is reported. Cen = centromere; Tel = telomere; IOSCA = infantile-onset spinocerebellar ataxia; EPT = partial epilepsy; UFS = urofacial syndrome; and CDTB = corneal dystrophy, Thiel-Behnke type. The American Journal of Human Genetics  , DOI: ( /302241) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

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