Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Pericentric inversion and partial monosomy 4q associated with congenital anomalies

Summary

A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter→16::q24→p16::q32→qter) is reported in an infant with congenital anomalies and psychomotor retardation.

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

References

  1. Golbus, M. S., Conte, F. A., Daentl, D. L.: Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies. J. Med. Genet. 10, 83–85 (1973)

  2. Grouchy, J. de, Turleau, C.: Atlas des Maladies Chromosomiques. Paris: Expansion Scientifique 1977

  3. Van Kempen, C.: A patient with congenital anomalies and a deletion of the long arm of chromosome 4 [46,XY, del(4)(q31)]. J. Med. Genet. 12, 204–207 (1975)

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Serville, F., Broustet, A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet 39, 239–242 (1977). https://doi.org/10.1007/BF00287019

Download citation

Keywords

  • Internal Medicine
  • Congenital Anomaly
  • Metabolic Disease
  • Structural Rearrangement
  • Psychomotor Retardation