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Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.

Publication ,  Journal Article
McDonald, M; Maynard, S; Sheldon, S; Innis, J
Published in: Am J Med Genet
February 1, 1994

This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5-->qter and monosomy 16p 13.3-->pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the possible role of the chromosomal rearrangement in the etiology of the thyroid carcinoma is discussed.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

February 1, 1994

Volume

49

Issue

3

Start / End Page

288 / 293

Location

United States

Related Subject Headings

  • Translocation, Genetic
  • Thyroid Neoplasms
  • Pedigree
  • Male
  • Intellectual Disability
  • Humans
  • Growth Disorders
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 16
  • Child
 

Citation

APA
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ICMJE
MLA
NLM
McDonald, M., Maynard, S., Sheldon, S., & Innis, J. (1994). Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. Am J Med Genet, 49(3), 288–293. https://doi.org/10.1002/ajmg.1320490309
McDonald, M., S. Maynard, S. Sheldon, and J. Innis. “Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.Am J Med Genet 49, no. 3 (February 1, 1994): 288–93. https://doi.org/10.1002/ajmg.1320490309.
McDonald M, Maynard S, Sheldon S, Innis J. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. Am J Med Genet. 1994 Feb 1;49(3):288–93.
McDonald, M., et al. “Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.Am J Med Genet, vol. 49, no. 3, Feb. 1994, pp. 288–93. Pubmed, doi:10.1002/ajmg.1320490309.
McDonald M, Maynard S, Sheldon S, Innis J. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. Am J Med Genet. 1994 Feb 1;49(3):288–293.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

February 1, 1994

Volume

49

Issue

3

Start / End Page

288 / 293

Location

United States

Related Subject Headings

  • Translocation, Genetic
  • Thyroid Neoplasms
  • Pedigree
  • Male
  • Intellectual Disability
  • Humans
  • Growth Disorders
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 16
  • Child