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Mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells.

K S Reddy·L Mak
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Abstract

Three rare mosaic unbalanced structural rearrangements found in routine peripheral blood analysis were confirmed in buccal mucosal cells using interphase FISH. Case 1 had a de novo mosaic triplication for 13q22q33 found in 22.5 % lymphocytes. D13S585 probe that maps to 13q32q33 confirmed the mosaicism in 41 % of buccal mucosal cells. Case 2 had additional material on a 3q derived from 14q31qter in 83 % of lymphocytes. The 14q-subtelomeric probe was used on buccal smear cells: 86 % had three signals and 14 % had two signals. Case 3 was a mosaic de novo add(5) in 32 % lymphocytes. The additional material was from 3p26pter. The 3p-subtelomere probe confirmed the mosaicism in 40 % buccal epithelial cells. This study shows the applicability of interphase FISH to confirm mosaic unbalanced rearrangements in a second tissue such as buccal mucosal cells.

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Abnormalities, MultipleAdultChildChromosome AberrationsChromosomes, Human, Pair 13Chromosomes, Human, Pair 14FemaleGenetic MarkersHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingLymphocytesMaleMosaicismMouth MucosaTelomereJournal Article

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K S Reddy, L Mak. Mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells.. https://doi.org/10.1016/s0003-3995(00)01032-7

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