Skip to main content
SpringerLink
Log in

A girl with karyotype 46,XX,del(7) (qter→p15:)

  • Clinical Case Reports
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

A girl with partial deletion of the short arms of one chromosome 7 is described. Among many other symptoms she has craniosynostosis. Early closure of cranio-sutures has previously been described in 2 of 3 patients with partial deletion 7. Investigation of a number of genetic marker systems shows that the HL-A, MN, AcP, and GPT loci are not located in the deleted segment.

Zusammenfassung

Es wird ein Mädchen mit teilweiser Deletion des kurzen Armes eines Chromosoms 7 beschrieben. Außer vielen anderen Symptomen hat sie eine Craniosynostose. Frühzeitiger Verschluß der Schädelnähte wurde auch bei 2 von 3 Patienten mit Deletion 7, die in der Literatur beschrieben sind, beobachtet. Untersuchung einer Reihe genetischer Markersysteme zeigt, daß die HL-A-, MN-, AcP- und GPT-loci nicht in dem deletierten Segment liegen.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Alfi, O., Donnell, G. N., Crandall, B. F., Derencsenyi, A., Menon, R.: Deletion of the short arm of chromosome 9 (46,9p-): A new deletion syndrome. Ann. Génét. 16, 17–22 (1973)

    Google Scholar 

  • Francke, U., Dixson, B., Mahan, G., Jones, O. W.: 10p-:New autosomal deletion syndrome? Birth Defects, Original Article Series. The National Foundation, New York (in press)

  • Wilson, M. G., Fujimoto, A., Shinno, N. W., Towner, J. W.: Giant satellites or translocation? Cytogenet. Cell Genet. 12, 209–214 (1973)

    Google Scholar 

  • Zackai, E. H., Breg, W. R.: Ring chromosome 7 with variable phenotypic expression. Cytogenet. Cell Genet. 12, 40–48 (1973)

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Human Genetics, University of Århus, Århus C, Denmark

    Ursula Friedrich

  2. Department of Pediatrics, Central Hospital of Randers, Randers, Denmark

    Troels Lyngbye & Jakob Øster

Authors
  1. Ursula Friedrich
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Troels Lyngbye
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jakob Øster
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Friedrich, U., Lyngbye, T. & Øster, J. A girl with karyotype 46,XX,del(7) (qter→p15:). Hum Genet 26, 161–165 (1975). https://doi.org/10.1007/BF00278448

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278448

Keywords

Search

Navigation