Interphase-FISH study in three patients with tetraploid/diploid mosaicism

• Published in: European journal of medical genetics Vol. 48; no. 1; pp. 41 - 50
• Main Authors: Cavalcanti, Denise P., Zanchetta, Luciene M.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Masson SAS 2005; Elsevier
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Body asymmetry; Cells, Cultured; Child; Child, Preschool; Chromosome abnormality; Congenital anomalies; Diploidy; Female; Fibroblasts; General aspects. Genetic counseling; Humans; In Situ Hybridization, Fluorescence; Infant; Interphase; Interphase-FISH; Lymphocytes - cytology; Lymphocytes - ultrastructure; Male; Medical genetics; Medical sciences; Mosaicism; Polyploidy; Skin - cytology; Skin - ultrastructure; Tetraploidy; Tetraploidy; Mosaicism; Interphase-FISH; Chromosome abnormality; Congenital anomalies; Body asymmetry; Chromosomal aberration; Human; Asymmetry; Interphase; Malformation; Fluorescence in situ hybridization
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2005.01.009

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 α-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.