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Article

Diploid/triploid mosaicism in dysmorphic patients

1 Nov 2002

Abstract excerpt

Diploid/triploid mosaicism is a dysmorphology syndrome consisting of mental retardation, truncal obesity, body and/or facial asymmetry, growth retardation, hypotonia, a small phallus, malformed low-set ears and micrognathia. In 75% of the cases, the blood karyotype is normal and the diagnosis can only be established after analysis of cultured fibroblasts. This chromosome abnormality may therefore be...

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PMID: 12431252
DOI: 10.1034/j.1399-0004.2002.620504.x

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