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Variability of r(22) Chromosome Phenotypical Expression

Published online by Cambridge University Press:  26 February 2025

B. Dallapiccola ,
V. Brinchi  and
P. Curatolo
B. Dallapiccola
Affiliation:
Departments of Medical Genetics and of Child Neuropsychiatry, University of Rome, Italy
V. Brinchi
Affiliation:
Departments of Medical Genetics and of Child Neuropsychiatry, University of Rome, Italy
P. Curatolo
Affiliation:
Departments of Medical Genetics and of Child Neuropsychiatry, University of Rome, Italy

Abstract

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Two unrelated patients with multiple congenital malformations and severe mental retardation were found to be carrier of a non-mosaic ring 22 chromosome abnormality. These observations further confirm the phenotypical variability of r(22) expression, which makes unreliable the attempts to delineate a clinical profile of the syndrome

Type
Brief Report
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 3-4 , October 1977 , pp. 287 - 290
Copyright
Copyright © The International Society for Twin Studies 1977

References

REFERENCES

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