A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, was 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 with those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. The latter include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of the retinal vessels and absence of deep perception.
|Number of pages||6|
|Journal||Acta Geneticae Medicae et Gemellologiae|
|Publication status||Published - 1974|
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