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Studio Citogenetico di 140 Pazienti affetti da Sindrome di Down

Published online by Cambridge University Press:  01 August 2014

N. Ricci ,
B. Ventimiglia  and
B. Dallapiccola
N. Ricci
Affiliation:
Clinica Medica Generale e Terapia Medica dell'Università di Ferrara
B. Ventimiglia
Affiliation:
Clinica Medica Generale e Terapia Medica dell'Università di Ferrara
B. Dallapiccola
Affiliation:
Clinica Medica Generale e Terapia Medica dell'Università di Ferrara

Summary

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The Authors report the results of a cytogenetical investigation on a group of 140 Down's syndrome patients: nine of them had a translocation (D/G or G/G) and four a mosaic (trisomy 21-22/apparently normal); a mongol girl had 48 chromosomes due to the presence of a small centric chromosome and 21-22 trisomy. All other patients had a regular 21-22 trisomy. Some additional morphological anomalies are described, but interpreted as being expression of the normal human karyotype's variability.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 4 , October 1967 , pp. 376 - 383
Copyright
Copyright © The International Society for Twin Studies 1967

References

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