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

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,...

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Autores principales: Ventruto, V, Sebastio, L, Sebastio, G, DeMasi, R V, Vota, U, Farina, L, Festa, B
Formato: Artigo
Lenguaje:Inglês
Publicado: 1977
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013627/
https://ncbi.nlm.nih.gov/pubmed/592357
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