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On the syndrome caused by a deletion of the short arm of a 4-5 chromosome

Published online by Cambridge University Press:  01 August 2014

N. Ricci ,
B. Ventimiglia ,
B. Dallapiccola ,
F. Franceschini  and
G. Preto
N. Ricci
Affiliation:
Istituto di Patologia Speciale Medica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
B. Ventimiglia
Affiliation:
Istituto di Patologia Speciale Medica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
B. Dallapiccola
Affiliation:
Istituto di Patologia Speciale Medica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
F. Franceschini
Affiliation:
Istituto di Patologia Speciale Medica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
G. Preto
Affiliation:
Istituto di Patologia Speciale Medica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana

Summary

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During routine karyotypic analysis of patients with mental deficiency and congenital malformations, a partial deletion of the short arm of a B (4-5) chromosome was observed in two children (a male, 23 months old, and a female, 4 months old).

Clinical pictures and chromosomal abnormalities were found to be consistent with the findings in the « cri du chat » syndrome.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 1 , January 1966 , pp. 36 - 50
Copyright
Copyright © The International Society for Twin Studies 1966

References

Bibliografia

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