Mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells

Annales de génétique
K S Reddy, L Mak


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.


Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jie Xu, Zhong Chen
Mar 28, 2002·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·D Mahieu-CaputoM Dommergues

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