title: Interphase-FISH study in three patients with tetraploid/diploid mosaicism.
abstract: We report tetraploid/diploid mosaicism in a boy and two girls detected by cultured skin fibroblasts. In all these children, interphase-FISH using DXZ1 probe confirmed the original karyotype. Tetraploid mosaicism was also confirmed by alpha-satellite probes from chromosomes 2, 6, 7, 9, 10, 17, 18 and Y in fibroblasts from the boy. The common features in these children are failure to thrive, slight mental deficiency and some degree of body asymmetry. The advantage of using interphase-FISH is the possibility of analysing a great number of cells in short time, thus giving a more precise percentage with regard to abnormal cells.
authors.affiliation: Programa de Genética Perinatal, CAISM and Departamento de Genética Médica, FCM-UNICAMP, Campinas, SP, Brazil. denisepc@unicamp.br
authors.forename: Denise P
authors.initials: DP
authors.lastname: Cavalcanti
authors.forename: Luciene M
authors.initials: LM
authors.lastname: Zanchetta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D004171:Diploidy; D005260:Female; D005347:Fibroblasts; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007399:Interphase; D008214:Lymphocytes / Q000166:cytology* / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D011123:Polyploidy; D012867:Skin / Q000166:cytology* / Q000648:ultrastructure