title: Mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells.
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.
authors.affiliation: Cytogenetics Laboratory, Quest Diagnostics Inc., CA, San Juan Capistrano, USA. reddyk@questdiagnostics.com
authors.forename: K S
authors.initials: KS
authors.lastname: Reddy
authors.forename: L
authors.initials: L
authors.lastname: Mak
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009061:Mouth Mucosa / Q000473:pathology*; D016615:Telomere
chemical_list: D005819:Genetic Markers