Abnormal Villous Morphology Associated with Triple Trisomy of Paternal Origin Alexis Norris-Kirby, Jill M. Hagenkord, Malti P. Kshirsagar, Brigitte M.

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Presentation transcript:

Abnormal Villous Morphology Associated with Triple Trisomy of Paternal Origin Alexis Norris-Kirby, Jill M. Hagenkord, Malti P. Kshirsagar, Brigitte M. Ronnett, Kathleen M. Murphy The Journal of Molecular Diagnostics Volume 12, Issue 4, Pages 525-529 (July 2010) DOI: 10.2353/jmoldx.2010.090184 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Villi are variably sized, irregularly shaped, and variably hydropic (A). Focal marked villous scalloping creates focal trophoblastic inclusions (B). Circumferential trophoblastic hyperplasia is essentially lacking (A, C), with the exception of a rare villus with focal mild hyperplasia (D, lower right); other normal-appearing small villi with polarized trophoblast are present (D, left). E: p57 expression is diffusely present in villous stromal cells and the cytotrophoblast (expression in intermediate trophoblastic cells serves as internal positive control). The Journal of Molecular Diagnostics 2010 12, 525-529DOI: (10.2353/jmoldx.2010.090184) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Capillary electrophoresis data of five STR loci for decidua (D) and villous (V). x axis = size in bases; y axis = fluorescence intensity; r = ratio of peak height of longer allele (allele to the right) to peak height of shorter allele (allele to the left). The parental origin of the alleles in the villous tissue [maternal (M) or paternal (P)] is identified. Note that the STR loci on chromosomes 4 (FGA) and 12 (vWA) demonstrate one maternal and one paternal allele in approximately equal ratio, whereas the STR loci on chromosomes 7, 13, and 20 (D7S820, D13S317, and D20S186) demonstrate one maternal and one paternal allele with allelic ratios consistent with a double dosage of the paternal allele (see Materials and Methods for interpretation of the allelic ratios). The Journal of Molecular Diagnostics 2010 12, 525-529DOI: (10.2353/jmoldx.2010.090184) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Single nucleotide polymorphism array virtual karyotype for the villous tissue sample. The chromosomes are differentially colored and plotted along the x axis. The top plot (A) is the log2ratio of the test/normal smoothed over 50 single nucleotide polymorphisms. Only single nucleotide polymorphisms on fragments between 300 to 700 bp were used to generate the plot of the log2ratio. The green heterozygous call bars (B) are generated by the software whenever it obtains an AB call in the test sample. Copy number was calculated using the Hidden Markov Model (C) for copy number (dark blue = 0, light blue = 1, yellow = 2, pink = 3, hot pink = 4, and red = 5 or more). The array demonstrated two copies and heterozygosity at all chromosomes except for chromosomes 7, 13, and 20 which demonstrated three copies (noted with arrows). The Journal of Molecular Diagnostics 2010 12, 525-529DOI: (10.2353/jmoldx.2010.090184) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions