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

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

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


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
Issue number1
StatePublished - Aug 4 1994
Externally publishedYes


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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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