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

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Presentation on theme: "Successful application of preimplantation genetic diagnosis for hypokalaemic periodic paralysis  Trinitat M. Alberola, Xavier Vendrell, Rosa Bautista-Llácer,"— Presentation transcript:

1 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 (August 2010) DOI: /j.rbmo Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

2 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  , DOI: ( /j.rbmo ) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

3 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  , DOI: ( /j.rbmo ) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

4 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  , DOI: ( /j.rbmo ) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions


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