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  • Title: Mosaic trisomy 15 and hemihypertrophy.
    Author: Gérard-Blanluet M, Elbez A, Bazin A, Danan C, Verloes A, Janaud JC.
    Journal: Ann Genet; 2001; 44(3):143-8. PubMed ID: 11694227.
    Abstract:
    We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed.
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