De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations

S. K. Shapira, Kent L Anderson, A. Orr-Urtregar, W. J. Craigen, J. R. Lupski, L. G. Shaffer

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

We report on 2 unrelated patients who had chromosome analysis performed because of psychomotor delay, failure to thrive, and minor anomalies. Each patient had a novel proximal 14q deletion (q11.2 to q21.1 in patient 737 and q12 to q22 in patient 777). Polymorphic (C-A)(n) microsatellite markers distributed along the length of chromosome 14q were examined in both patients and their parents in order to determine which marker loci were deleted. The deletion in patient 737 was found to be paternal in origin, based on the analysis of 2 marker loci (D14S54 and D14S70), thus assigning these loci to the deleted interval q11.2 q21.1. Furthermore, 3 loci were not deleted (TCRD, D14S50, and D14S80), suggesting that they are within or proximal to 14q11.2. In the other family (patient 777), none of the markers were fully informative, but the deleted chromosome was determined to be paternally derived based on cytogenetic heteromorphisms. Despite having overlapping proximal 14q deletions, these 2 patients shared few phenotypic similarities except for failure to thrive, micrognathia, and hypoplasia of the corpus callosum. Therefore, a distinct proximal 14q deletion syndrome is not yet apparent. However, the molecular analyses facilitated the localization of several 14q DNA markers to the deletion regions in these 2 patients, while excluding other markers from each deletion.

Original languageEnglish (US)
Pages (from-to)44-50
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume52
Issue number1
DOIs
StatePublished - 1994
Externally publishedYes

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Cytogenetics
Failure to Thrive
Chromosomes
Micrognathism
Corpus Callosum
Genetic Markers
Microsatellite Repeats
Parents

Keywords

  • chromosome 14 heteromorphism
  • chromosome deletion
  • DNA microsatellite markers
  • human chromosome 14
  • psychomotor retardation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Shapira, S. K., Anderson, K. L., Orr-Urtregar, A., Craigen, W. J., Lupski, J. R., & Shaffer, L. G. (1994). De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations. American Journal of Medical Genetics, 52(1), 44-50. https://doi.org/10.1002/ajmg.1320520109

De novo proximal interstitial deletions of 14q : Cytogenetic and molecular investigations. / Shapira, S. K.; Anderson, Kent L; Orr-Urtregar, A.; Craigen, W. J.; Lupski, J. R.; Shaffer, L. G.

In: American Journal of Medical Genetics, Vol. 52, No. 1, 1994, p. 44-50.

Research output: Contribution to journalArticle

Shapira, SK, Anderson, KL, Orr-Urtregar, A, Craigen, WJ, Lupski, JR & Shaffer, LG 1994, 'De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations', American Journal of Medical Genetics, vol. 52, no. 1, pp. 44-50. https://doi.org/10.1002/ajmg.1320520109
Shapira, S. K. ; Anderson, Kent L ; Orr-Urtregar, A. ; Craigen, W. J. ; Lupski, J. R. ; Shaffer, L. G. / De novo proximal interstitial deletions of 14q : Cytogenetic and molecular investigations. In: American Journal of Medical Genetics. 1994 ; Vol. 52, No. 1. pp. 44-50.
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