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- W2162411890 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." @default.
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- W2162411890 date "1977-10-01" @default.
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- W2162411890 title "Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome." @default.
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- W2162411890 doi "https://doi.org/10.1136/jmg.14.5.383" @default.
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