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Case Reports
. 1977 Oct;14(5):383-6.
doi: 10.1136/jmg.14.5.383.

Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome

V Ventruto, L Sebastio, G Sebastio, R V DeMasi, U Vota, L Farina, B Festa
Case Reports

Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome

V Ventruto et al. J Med Genet. 1977 Oct.

Abstract

A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46, XX/47, XX, +r(?). It was not possible to identify the origin of the extra ring chromosome. It is difficult to establish the role of such a cytogenetic finding in the aetiology of the syndrome.

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