Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Mol Genet Genomic Med. 2019 Oct;7(10):e00938. doi: 10.1002/mgg3.938. Epub 2019 Aug 29.
The aim was to investigate if there were any differences in the degree of mosaicism between the left- and right-hand sides of the buccal mucosa in women with Turner syndrome.
Buccal smears were taken on the left- and right-hand sides at the same time for genetic analyses with fluorescence in situ hybridization in women with Turner syndrome, n = 20; 10 with and 10 without mosaicism based on the blood karyotype, and one control. A difference in the degree of mosaicism ≥5% between the sides was considered as an actual difference and <5% as equivalent.
Of 20, 10 (50%) had ≥ 5% difference in the degree of mosaicism between the left- and right-hand sides of the buccal mucosa. The mean difference was 9.1% and the median was 4.5%, range 1%-38%. The control with ordinary female karyotype had no side difference.
There was an intraorganic mosaicism of the buccal mucosa with a side difference in the degree of mosaicism of up to 38% in women with Turner syndrome. When mosaicism is strongly suspected, but not confirmed by the blood karyotype, it is recommended that buccal smears from both sides of the oral cavity should be analyzed.
本研究旨在探讨特纳综合征女性左右颊黏膜的嵌合体程度是否存在差异。
选择 20 例特纳综合征女性患者，同时在左右两侧颊黏膜取口腔拭子进行荧光原位杂交的遗传学分析。根据血核型，10 例为嵌合体，10 例为非嵌合体，另选 1 例正常女性作为对照。如果两侧颊黏膜的嵌合体程度差异≥5%，则认为存在实际差异，<5%则认为是等效的。
20 例患者中，10 例（50%）左右颊黏膜的嵌合体程度存在≥5%的差异。平均差异为 9.1%，中位数为 4.5%，范围为 1%-38%。具有普通女性核型的对照者没有侧别差异。
特纳综合征女性颊黏膜存在器官内嵌合体，左右颊黏膜的嵌合体程度差异可达 38%。当强烈怀疑嵌合体，但血核型未证实时，建议分析口腔两侧的口腔拭子。
