2003
DOI: 10.1089/109065703322537232
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A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome

Abstract: Pallister-Killian syndrome (PKS), a rare disorder, is characterized by tissue-limited or tissue-specific mosaicism. The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. Diagnosis of i(12p) has been carried out on buccal smears before and was shown to be an easy and feasible method. All previously published studies used alpha-satellite probes for the diagnosis and as such have several pitfalls. Our approach, using dual-color, locus-spe… Show more

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Cited by 22 publications
(13 citation statements)
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“…The addition of a single cell per well was confirmed visually for each well using phase contrast microscopy. To determine whether human UCMS cells were karyotypically stable in culture, human UCMS cells from various passages [2][3][4][5][6][7][8][9][10][11][12][13] were selected for karyotypic analysis as described elsewhere [33,34].…”
Section: Generation and Expansion Of Ucms Cellsmentioning
confidence: 99%
“…The addition of a single cell per well was confirmed visually for each well using phase contrast microscopy. To determine whether human UCMS cells were karyotypically stable in culture, human UCMS cells from various passages [2][3][4][5][6][7][8][9][10][11][12][13] were selected for karyotypic analysis as described elsewhere [33,34].…”
Section: Generation and Expansion Of Ucms Cellsmentioning
confidence: 99%
“…12 We analyzed the spatial distribution of the green and red signals to detect the specific patterns of signal aggregation consistent with i(12p), as previously reported. [13][14][15][16] A classical seminoma specimen was used as a positive control for FISH analyses, and lymphocytes in dysgerminoma specimens were used for the negative control. The positive control specimen represented by a classical seminoma showed both overrepresentation of 12p and the presence of i(12p) in a small percentage of nuclei, while lymphocytes from the background of dysgerminomas were consistently negative for 12p overrepresentation and for i(12p).…”
Section: Tissue Preparation and Fluorescence In Situ Hybridizationmentioning
confidence: 99%
“…Criteria for the signal detection were described previously. [14][15][16] Fifty to 200 cells were counted for each of the components. Classic seminoma of the testis was used as a positive control.…”
Section: Fluorescent In Situ Hybridizationmentioning
confidence: 99%