1. Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis 
Jiandong Shen, David Stephen Cram, Wei Wu, Lingbo Cai, Xiaoyu Yang, Xueping Sun, Yugui Cui, Jiayin Liu 
Reproductive BioMedicine Online 
Volume 27, Issue 2, Pages (August 2013)
DOI: /j.rbmo
Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

2. Figure 1
Mini-sequencing and direct sequencing results for parents, proband and embryo 2 (fetus). Left charts represent the direct sequencing profiles showing the maternal mutation (T>C). Right charts represent forward (T>C) and reverse mini-sequencing (A>G) profiles.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

3. Figure 2
Haplotype linkage analysis of parents, proband and PGD embryos. Numbers 1–4 designate different allelic sizes for each short tandem repeat: within boxes indicate the affected haplotype and outside boxes the normal haplotype. For each individual or embryo, the paternal haplotype is shown on the left and the maternal haplotype on the right. ? denotes no allelic assignment in embryos 3, 4, 5 and 6 due to allele drop out.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

4. Figure 3
Genescan profiles of short tandem repeat D11S1338 for parents, proband and embryo 2. The true allelic peaks in blue (six FAM-labelled PCR products) are marked by the grey shading. The other unmarked blue peaks to the left represent PCR stutter bands of the (CA)n repeat within the short tandem repeat sequence. Embryo 2 inherited the affected allele from the father and normal allele from the mother.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

5. Figure 4
Array CGH results for embryo 2 and corresponding fetus. The profile of embryo 2 was derived from 24sure V3 combined analysis whereas the fetal profile was derived from Focus constitutional analysis.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions