Mosaicism in three cases of 47, XY (or XX), +i(18)(p10) detected by interphase FISH of buccal mucosa.
Three cases of i(18)(p10) were studied. By FISH of an alphoid probe (D18Z1) in nuclei of buccal epithelium, mosaicism was suggested in two and confirmed in one. The question is raised whether a normal cell line is a prerequisite for survival. A protocol is presented for interphase FISH of mucosal smears.
Pfeiffer
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Institut für Humangenetik der Friedrich-Alexander Universität, Erlangen Nürnberg, Germany.
Schulze
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D002610:Cheek; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009061:Mouth Mucosa / Q000502:physiology*; D014314:Trisomy