Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer

• Published in: Cytogenetic and genome research Vol. 121; no. 1; pp. 14 - 17
• Main Authors: Bakshi, S.R., Dave, B.J., Sanger, W., Brahmbhatt, M.M., Trivedi, P.J., Kakadia, P.M., Patel, S.J.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2008
• Subjects: Adult; Carcinoma, Squamous Cell - genetics; Child; Chromosome Aberrations; Chromosome Painting; Chromosomes, Human, Pair 21 - genetics; Cytogenetics; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Middle Aged; Mosaicism; Original Article; Pedigree; Tongue Neoplasms - genetics; Trisomy
• ISSN: 1424-8581; 1424-859X
• DOI: 10.1159/000124376

Cytogenetic analysis in peripheral blood lymphocytes of a 50-year-old female with tongue cancer showed the presence of one to three copies of a small supernumerary marker chromosome (sSMC) in a mosaic state. Family studies also revealed the marker in mosaic form in four (age <29 years) of eleven clinically normal individuals studied from her family of 16 individuals spanning three generations. Due to the extremely small size of the marker chromosome, identification by classical cytogenetics was not informative. Multicolor FISH followed by whole chromosome painting identified the marker as a derivative of chromosome 21. This is the first report of sSMC21 in an adult-onset tongue cancer patient and some of her family members with no clinical symptoms.