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

S. R. Bakshi, Bhavana J Dave, W. Sanger, M. M. Brahmbhatt, P. J. Trivedi, P. M. Kakadia, S. J. Patel

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)14-17
Number of pages4
JournalCytogenetic and Genome Research
Volume121
Issue number1
DOIs
StatePublished - Jun 1 2008

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Tongue Neoplasms
Genetic Markers
Chromosome Painting
Chromosomes, Human, Pair 21
Cytogenetic Analysis
Cytogenetics
Lymphocytes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer. / Bakshi, S. R.; Dave, Bhavana J; Sanger, W.; Brahmbhatt, M. M.; Trivedi, P. J.; Kakadia, P. M.; Patel, S. J.

In: Cytogenetic and Genome Research, Vol. 121, No. 1, 01.06.2008, p. 14-17.

Research output: Contribution to journalArticle

Bakshi, S. R. ; Dave, Bhavana J ; Sanger, W. ; Brahmbhatt, M. M. ; Trivedi, P. J. ; Kakadia, P. M. ; Patel, S. J. / Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer. In: Cytogenetic and Genome Research. 2008 ; Vol. 121, No. 1. pp. 14-17.
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