A case of segmental paternal isodisomy of chromosome 14

Karen J. Coveler, Sam P. Yang, V. Reid Sutton, Jay M Milstein, Yuan Qing Wu, Cami Knox-Du Bois, Linda S. Beischel, John P. Johnson, Lisa G. Shaffer

Research output: Contribution to journalArticle

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Abstract

Uniparental disomy of chromosome 14 (UPD 14) results in one of two distinct abnormal phenotypes, depending upon the parent of origin. This discordance may result from the reciprocal over-expression and/or under-expression of one or more imprinted genes. We report a case of segmental paternal isodisomy for chromosome 14 with features similar to those reported in other paternal disomy 14 cases. Microsatellite marker analysis revealed an apparent somatic recombination event in 14q12 leading to proximal biparental inheritance, but segmental paternal uniparental isodisomy distal to this site. Analysis of monochromosomal somatic cell hybrids containing either the paternally inherited or the maternally inherited chromosome 14 revealed no deletion of the maternally inherited chromosome 14 and demonstrated the presence of paternal sequences from D14S121 to the telomere on both chromosomes 14. Thus, the patient has paternal isodisomy for 14q12-14qter. Because the patient shows most of the features associated with paternal disomy 14, this supports the presence of the imprinted domain(s) distal to 14q12 and suggests that the proximal region of chromosome 14 does not contain imprinted genes that contribute significantly to the paternal UPD 14 phenotype.

Original languageEnglish (US)
Pages (from-to)251-256
Number of pages6
JournalHuman Genetics
Volume110
Issue number3
DOIs
StatePublished - Mar 2002

Fingerprint

Chromosomes, Human, Pair 14
Uniparental Disomy
Phenotype
Hybrid Cells
Telomere
Microsatellite Repeats
Genetic Recombination
Genes
Maternal Inheritance

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Coveler, K. J., Yang, S. P., Sutton, V. R., Milstein, J. M., Wu, Y. Q., Knox-Du Bois, C., ... Shaffer, L. G. (2002). A case of segmental paternal isodisomy of chromosome 14. Human Genetics, 110(3), 251-256. https://doi.org/10.1007/s00439-002-0688-4

A case of segmental paternal isodisomy of chromosome 14. / Coveler, Karen J.; Yang, Sam P.; Sutton, V. Reid; Milstein, Jay M; Wu, Yuan Qing; Knox-Du Bois, Cami; Beischel, Linda S.; Johnson, John P.; Shaffer, Lisa G.

In: Human Genetics, Vol. 110, No. 3, 03.2002, p. 251-256.

Research output: Contribution to journalArticle

Coveler, KJ, Yang, SP, Sutton, VR, Milstein, JM, Wu, YQ, Knox-Du Bois, C, Beischel, LS, Johnson, JP & Shaffer, LG 2002, 'A case of segmental paternal isodisomy of chromosome 14', Human Genetics, vol. 110, no. 3, pp. 251-256. https://doi.org/10.1007/s00439-002-0688-4
Coveler KJ, Yang SP, Sutton VR, Milstein JM, Wu YQ, Knox-Du Bois C et al. A case of segmental paternal isodisomy of chromosome 14. Human Genetics. 2002 Mar;110(3):251-256. https://doi.org/10.1007/s00439-002-0688-4
Coveler, Karen J. ; Yang, Sam P. ; Sutton, V. Reid ; Milstein, Jay M ; Wu, Yuan Qing ; Knox-Du Bois, Cami ; Beischel, Linda S. ; Johnson, John P. ; Shaffer, Lisa G. / A case of segmental paternal isodisomy of chromosome 14. In: Human Genetics. 2002 ; Vol. 110, No. 3. pp. 251-256.
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