FigureĀ 1
The karyogram of embryo 19 is shown. The karyogram is composed of color bars that each represent the chromosome copy number state based on the results of the BAC (bacterial artificial chromosomes) array and the SNP (single nucleotide polymorphism) copy number and genotyping data in a specific blastomere. Black represents a normal region, red a hemizygous deletion, green a duplication, dark green an amplification and gray discordance between the analyses or unreliable aberrations. In this male embryo, whole chromosome imbalances of mitotic origin were detected in chromosomes 1 and 14, whereas chromosome 20 showed a monosomy in all sister blastomeres suggesting a meiotic non-disjunction. Moreover, 4q and 10q terminal deletions with a reciprocal 4q duplication and 10q amplification respectively were detected in a proportion of its sister blastomeres. Finally, a 5q terminal deletion and reciprocal 5q duplication were detected in two blastomeres, whereas the remaining part of the chromosome proximal to the 5q deletion was trisomic. Two sister blastomeres contained a monosomy for chromosome 5. In addition, a remaining sister blastomere contained three copies of chromosome 5, whereas a fifth lacked a 5q terminal part of which the size was equal to the partial deletion and duplication in its sister blastomeres.

The karyogram of embryo 19 is shown. The karyogram is composed of color bars that each represent the chromosome copy number state based on the results of the BAC (bacterial artificial chromosomes) array and the SNP (single nucleotide polymorphism) copy number and genotyping data in a specific blastomere. Black represents a normal region, red a hemizygous deletion, green a duplication, dark green an amplification and gray discordance between the analyses or unreliable aberrations. In this male embryo, whole chromosome imbalances of mitotic origin were detected in chromosomes 1 and 14, whereas chromosome 20 showed a monosomy in all sister blastomeres suggesting a meiotic non-disjunction. Moreover, 4q and 10q terminal deletions with a reciprocal 4q duplication and 10q amplification respectively were detected in a proportion of its sister blastomeres. Finally, a 5q terminal deletion and reciprocal 5q duplication were detected in two blastomeres, whereas the remaining part of the chromosome proximal to the 5q deletion was trisomic. Two sister blastomeres contained a monosomy for chromosome 5. In addition, a remaining sister blastomere contained three copies of chromosome 5, whereas a fifth lacked a 5q terminal part of which the size was equal to the partial deletion and duplication in its sister blastomeres.

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