Hostname: page-component-cd9895bd7-gxg78 Total loading time: 0 Render date: 2024-12-25T02:45:47.982Z Has data issue: false hasContentIssue false
  • English
  • Français

Aneusomy by Recombination: A possible example involving the E18 chromosome

Published online by Cambridge University Press:  01 August 2014

M. Bartalos  and
H. B. Richardson Jr.
M. Bartalos*
Affiliation:
Medical Genetics Unit, Howard University College of Medicine, Washington, D. C.
H. B. Richardson Jr.*
Affiliation:
Children's Diagnostic and Development Center, Georgetown University Hospital, Washington, D. C.
*
United States Public Health Service Hospital, Baltimore, Md., U.S.A.
Dept. of Neurology, Children's Hospital of the District of Columbia, Washington, D. C., U.S.A.

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A 5 year old female child is described with mental and growth retardation, prominent occiput, low-set ears, moderate mid-face hypoplasia, congenital heart defect, mal-set toes, and a relatively high frequency of whorls on the fingers. The abnormal E18 chromosome found is thought to represent a partial deletion of the long arm with trisomy for a small terminal segment of the short arm as the result of a pericentric shift followed by crossing-over within the inverted shifted segment. Thus this case may represent a further example of “aneusomy by recombination”.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 18 , Issue 2 , April 1969 , pp. 117 - 124
Copyright
Copyright © The International Society for Twin Studies 1969

References

Bartalos, M., Baramki, T. A. (1967). Medical Cytogenetics. Williams & Wilkins, Baltimore.Google Scholar
Day, E. J., Marshall, R., MacDonald, P. A. C., Davidson, W. M. (1967). Deleted chromosome 18 with paternal mosaicism. Lancet, 2: 137.Google Scholar
Destine, M. L., Punnett, H. H., Thovichit, S., Digeorge, A. M., Weiss, L. (1967). La délétion partielle du bras long du chromosome 18 (syndrome 18q-). Ann. Genet., 10: 65.Google Scholar
Grouchy, J. de, Royer, P., Salmon, C., Lamy, M. (1964). Délétion partielle des bras longs du chromosome 18. Path. Biol., 12: 579.Google Scholar
Insley, J. (1967). Syndrome associated with a deficiency of part of the long arm of chromosome no. 18. Arch. Dis. Child., 42: 140.CrossRefGoogle Scholar
Kushnick, T., Matsushita, G. (1968). Partial deletion of long arms of chromosome 18. Pediatrics, 42: 194.Google Scholar
Lejeune, J., Berger, R. (1965). Sur deux observations familiales de translocations complexes. Ann. Genet., 8: 21.Google Scholar
Lejeune, J., Lafourcade, J., Rethore, M. O., Berger, R. (1966). La délétion partielle du bras long du chromosome 18. Individualisation d'un nouvel état morbide. Ann. Genet., 9: 31.Google Scholar
Lejeune, J., Rethore, M. O., Lafourcade, J., Dutrillaux, B., Canlorbe, P., Labrune, B., Berger, R. (1967). Deux cas de syndrome 18q- en mosaique (46, XX/46, XX, 18q-). Ann. Genet., 10: 18.Google Scholar
Linsjö, A., Hall, B. (1967). Partial monosomy of long arm of an E chromosome. A new syndrome. Hereditas, 57: 205.Google Scholar
Nance, W. E., Higdon, S. H., Chown, B., Engel, E. (1968). Partial E-18 long-arm deletion. Lancet, 1: 303.CrossRefGoogle ScholarPubMed
Wertelecki, W., Schindler, A. M., Gerald, P. S. (1966). Partial deletion of chromosome 18. Lancet, 2: 641.Google Scholar