File:Mapping ophthalmo-acromelic syndrome.png

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Figure 1. Mapping ophthalmo-acromelic syndrome.

Clinical photographs (a,b) and radiographs (c) of patient R14C12 showing bilateral anophthalmia, in association with bilateral postaxial oligodactyly and cutaneous syndactyly of 2nd & 3rd toes. (d) Multipoint linkage analysis using 10K SNPchip data from families 1–3 showing a significant LOD score of Z = 5.3 at 14q22.3–24.2, a region also identified by autozygosity mapping (see Table 1). (e) Microsatellite marker analysis for affected individuals in Families 1–3 and Family 9 showing region of homozygosity, but no common haplotype. (f) The microsatellite data refined the OAS candidate interval to Chr14∶69.89–71.26 Mb which is shown diagrammatically with the 22 annotated genes that were sequenced in this study (UCSC assembly GRCh37).
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Source https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002114 Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, et al. (2011) Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. PLoS Genet 7(7): e1002114. https://doi.org/10.1371/journal.pgen.1002114
Author Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, et al.
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current20:51, 27 September 2024Thumbnail for version as of 20:51, 27 September 20242,066 × 1,941 (2.03 MB)Rasbak (talk | contribs){{Information |description=Figure 1. Mapping ophthalmo-acromelic syndrome.<br> Clinical photographs (a,b) and radiographs (c) of patient R14C12 showing bilateral anophthalmia, in association with bilateral postaxial oligodactyly and cutaneous syndactyly of 2nd & 3rd toes. (d) Multipoint linkage analysis using 10K SNPchip data from families 1–3 showing a significant LOD score of Z = 5.3 at 14q22.3–24.2, a region also identified by autozygosity mapping (see Table 1). (e) Microsatellite marker a...

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