1. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier 
Nathan R. Treff, Ph.D., Xin Tao, M.S., Wendy J. Schillings, M.D., Paul A. Bergh, M.D., Richard T. Scott, M.D., Brynn Levy, Ph.D. 
Fertility and Sterility 
Volume 96, Issue 1, Pages e58-e65 (July 2011)
DOI: /j.fertnstert
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

2. Figure 1
Workup results of a patient with ALGS. (A) Conventional karyotype analysis confirmed an apparently balanced translocation, 46,XX,t(2;20)(q21;p12.2). (B) SNP oligonucleotide microarray analysis copy number (CN) analysis of chromosome 20 revealed a microdeletion (including the Jagged1 locus) that causes ALGS. The expanded view of cytoband 20p12.2 indicates the dbSNP rs identifiers for each of the 6 SNPs identified as informative and used in the subsequent triple-factor PGD of embryos derived from the patient during 2 IVF cycles. (C) Real-time polymerase chain reaction results for lymphocyte samples from the patient, partner, or mixture of the 2 illustrating the expected genotypes of homozygous opposite for each intended parent and heterozygous for the mixtures. Genomic DNA of each sample served as a control for the expected genotypes of the 5-cell samples. (D) Confirmation of the 2.36-Mb deletion using fluorescence in situ hybridization (FISH) with probe RPC I10 (Jagged1 locus). Only 1 copy of the Jagged1 locus, on the normal chromosome 20, is present.
Fertility and Sterility  , e58-e65DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

3. Figure 2
(A) Microarray analysis of embryos derived from the first IVF cycle of the patient with a balanced translocation, 46,XX,t(2;20)(q21;p12.2), and ALGS caused by a microdeletion of 20p12.2. The 2 embryos (embryo 2 and embryo 5) diagnosed as either “balanced” or normal using the predefined chromosome aneuploidy analysis settings were subsequently identified as “balanced” ALGS carriers after the microdeletion analysis settings were used within 20p12. (B) Real-time PCR–based analysis of the microdeletion was consistent with SNP microarray results.
Fertility and Sterility  , e58-e65DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

4. Figure 3
SNP microarray and real-time PCR–based analysis result (rs ) of (A) 2 embryos selected for transfer and (B) the resulting newborn. Both embryos and the resulting newborn were euploid and negative for the microdeletion. The newborn was found to be unaffected by ALGS and karyotypically normal by conventional G-banding analysis (C) and represents the first successful outcome following PGD to distinguish balanced from normal chromosomes in embryos from a translocation carrier.
Fertility and Sterility  , e58-e65DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions