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La Sindrome di Franceschetti. Osservazioni citogenetiche

Published online by Cambridge University Press:  01 August 2014

A. Serra ,
I. Milanesi  and
V. Gualandri
A. Serra
Affiliation:
Sezione di Citogenetica « Senatore Borletti » Centro di Studi, di Genetica Umana dell'Università Milano (Italia) Divisione Otorinolaringologica Ospedale Maggiore di Milano (Italia)
I. Milanesi
Affiliation:
Sezione di Citogenetica « Senatore Borletti » Centro di Studi, di Genetica Umana dell'Università Milano (Italia) Divisione Otorinolaringologica Ospedale Maggiore di Milano (Italia)
V. Gualandri
Affiliation:
Sezione di Citogenetica « Senatore Borletti » Centro di Studi, di Genetica Umana dell'Università Milano (Italia) Divisione Otorinolaringologica Ospedale Maggiore di Milano (Italia)

Summary

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The karyotype has been analysed of two subjects with mandibulofacial dysostosis (Franceschetti's syndrome), considering that the main anomalies of this condition are also present in other malformations for which the association with particular genomic or chromosomal aberrations has been demonstrated.

In both subjects, the karyotype was normal.

The comparison of the clinical and cytogenetic data of this malformation with those of others (trisomy-D1 syndrome, trisomy-18 syndrome, deletion-18 syndrome) provides further evidence of the complexity of the genie systems controlling the processes of individuation during embryonic development, and of their interferences. However, this also shows how difficult it is to obtain human chromosome maps through the study of the macroscopic phenotypic characteristics of certain chromosomal anomalies.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 14 , Issue 1 , January 1965 , pp. 73 - 85
Copyright
Copyright © The International Society for Twin Studies 1965

References

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