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Article

46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.

1 Nov 1993

Abstract excerpt

We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe...

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Identifiers

PMID: 8301657
DOI: 10.1136/jmg.30.11.966

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