Molecular karyotyping of preimplantation embryo using 23-chromosome SNP Microarray.

(A)demonstrates the normal diploid diagnostic reading obtained from a blastomere for chromosome 3. Normal AA, AB and BB alleles and a 0 reading for the smooth log R ratio is observed. (B)illustrates the duplication of pter→q32.1reading of chromosome 1 from a cleavage stage embryo. AA, AB and BB alleles are observed from q32.1 to qter of chromosome 1; however, AAA, AAB ABB and BBB are observed from pter to q32.1 of chromosome 1. A significant shift in the smooth log R ratio is observed from pter to q32.1 of chromosome 1. (C)shows a trisomy reading of chromosome 16, from a cleavage stage embryo. AAA, AAB ABB and BBB are observed without AB alleles represented. A significant shift in the smooth log R ratio is observed, consistent with the trisomy karyotype. (D)presents a monosomy reading of chromosome 15, from a cleavage stage embryo. AA and BB alleles are observed without AB alleles represented. A significant shift in the smooth log R ratio is observed, consistent with the monosomy karyotype. (E)displays the deletion of q10 to qter reading of chromosome 2 from a cleavage stage embryo. AA, AB and BB alleles are observed in pter to q10 of chromosome 2. However, AA and BB alleles are observed without AB in q10 to qter of chromosome 2 represented. A significant shift in the smooth log R ratio is observed in q10 to qter of chromosome 2.