Skip to main content
Log in

Deletion 2q31.3→2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

  • Case Observed
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

In a new case of interstitial del(2q), measurements of ribulose 5-phosphate 3-epimerase activity suggested that the locus for this enzyme might be localized to the subregion 2q32→q33.3.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Buchanan PD, Rhodes RL, Stevenson CE (1983) Interstitial deletion 2q31→q33. Am J Med Genet 15:121–126

    Google Scholar 

  • Franceschini P, Cirillo Silengo M, Davi G, Bianco R, Biagioli M (1983) Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and metal retardation. Hum Genet 64:98

    Google Scholar 

  • Gross MS, Weil D, Van Cong N, Finaz C, Foubert C, Cochet C, Parisi I, Grouchy J de, Frezal J (1982) Localisation du gene de la ribulose-5-phosphate-3-epimerase (RPE) sur le segment 2q32→2qter par hybridization cellulaire interspecifique. Ann Génét (Paris) 25:87–91

    Google Scholar 

  • Taysi K, Dengler DR, Jones LA, Heersma JR (1981) Interstitial deletion of the long arm of chromosome 2. Case report and review of literature. Ann Génét (Paris) 24:245–247

    Google Scholar 

  • Wood T (1975) Assay of D-ribose-5-phosphate-ketol isomerase and D-ribulose-5-phosphate-3-epimerase. Methods Enzymol 41:63–66

    Google Scholar 

  • Young RS, Shapiro SD, Hansen KL, Hine LK, Rainosek DE, Guerra RA (1983) Deletion 2q: two new cases with karyotypes del(2) (q31q33) and 46,XX,del(2)(q36). J Med Genet 20:199–202

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dallapiccola, B., Novelli, G. & Giannotti, A. Deletion 2q31.3→2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase. Hum Genet 79, 92 (1988). https://doi.org/10.1007/BF00291721

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291721

Keywords

Navigation