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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

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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

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