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

S. R. Bakshi; B. J. Dave; W. Sanger; M. M. Brahmbhatt; P. J. Trivedi; P. M. Kakadia; S. J. Patel

doi:10.1159/000124376

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

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

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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 language	English (US)
Pages (from-to)	14-17
Number of pages	4
Journal	Cytogenetic and Genome Research
Volume	121
Issue number	1
DOIs	https://doi.org/10.1159/000124376
State	Published - Jun 2008

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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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.",

author = "Bakshi, {S. R.} and Dave, {B. J.} and W. Sanger and Brahmbhatt, {M. M.} and Trivedi, {P. J.} and Kakadia, {P. M.} and Patel, {S. J.}",

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AU - Bakshi, S. R.

AU - Dave, B. J.

AU - Sanger, W.

AU - Brahmbhatt, M. M.

AU - Trivedi, P. J.

AU - Kakadia, P. M.

AU - Patel, S. J.

PY - 2008/6

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AB - 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.

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

Abstract

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