Mosaicism in three cases of 47, XY (or XX) , +i (18) (p10) detected by interphase FISH of buccal mucosa

Pfeiffer, R.A.; Schulze, T.

Annales de Genetique 37(4): 210-214

1994


ISSN/ISBN: 0003-3995
PMID: 7710258
Document Number: 429936
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.

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