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A Case of Trisomy 8

Published online by Cambridge University Press:  01 August 2014

B. Dallapiccola ,
P. E. Gallenga ,
A. Pinca  and
L. Capra
B. Dallapiccola*
Affiliation:
Medical Clinic, University of Ferrara, Italy
P. E. Gallenga
Affiliation:
Department of Ophthalmology, University of Ferrara, Italy
A. Pinca
Affiliation:
Department of Pediatrics, University of Ferrara, Italy
L. Capra
Affiliation:
Medical Clinic, University of Ferrara, Italy
*
Cattedra di Genetica Medica, Università di Roma, c/o Ospedale L. Spallanzani, Via Portuense 292, 00149 Roma, Italy

Abstract

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A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.

The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 253 - 258
Copyright
Copyright © The International Society for Twin Studies 1974

References

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