Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis Trinitat M. Alberola, Xavier Vendrell, Rosa Bautista-Llácer,

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Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis Trinitat M. Alberola, Xavier Vendrell, Rosa Bautista-Llácer, Maria Vila, Carmen Calatayud, Manuel Pérez-Alonso Reproductive BioMedicine Online Volume 21, Issue 2, Pages 206-211 (August 2010) DOI: 10.1016/j.rbmo.2010.04.019 Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Genealogical tree of the family requesting preimplantation genetic diagnosis for hypokalaemic periodic paralysis. Arrow indicates the consulting patient. Circle=female; square=male; non-shaded=not affected; shaded=affected; TOP=termination of pregnancy; triangle=abortion. Reproductive BioMedicine Online 2010 21, 206-211DOI: (10.1016/j.rbmo.2010.04.019) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Preclinical study and preimplantation genetic diagnosis (PGD) for hypokalaemic periodic paralysis (HOKPP): pedigree showing data from the relatives involved in the informativity study and embryos from the PGD cycle. Marker alleles are reported in the order from centromere to telomere (D1S2622–CACNL1A3–D1S1723) Unbroken vertical lines represent the normal alleles for CACNA1S. Dotted vertical lines represent the R528H-bearing haplotype for HOKPP. Reproductive BioMedicine Online 2010 21, 206-211DOI: (10.1016/j.rbmo.2010.04.019) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 3 Preimplantation genetic diagnosis results for some of the couple’s embryos. Paternal alleles linked to hypokalaemic periodic paralysis are circled. Reproductive BioMedicine Online 2010 21, 206-211DOI: (10.1016/j.rbmo.2010.04.019) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions