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J Med Genet. 1977 Oct;14(5):383-6.

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

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.

PMID:
592357
PMCID:
PMC1013627
[Indexed for MEDLINE]
Free PMC Article
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