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Studi Cromosomici nella Sindrome di Turner

Published online by Cambridge University Press:  01 August 2014

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

Summary

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Cytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 14 , Issue 2 , April 1965 , pp. 182 - 199
Copyright
Copyright © The International Society for Twin Studies 1965

References

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