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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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Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: Ventruto, V, Sebastio, L, Sebastio, G, DeMasi, R V, Vota, U, Farina, L, Festa, B
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1977
Teme:
Online pristup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013627/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/592357/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.5.383
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