Mosaic trisomy 15 and hemihypertrophy. |
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Authors: | M Gérard-Blanluet A Elbez A Bazin C Danan A Verloes J C Janaud |
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Affiliation: | Service de Pédiatrie Néonatale, Centre Hospitalier Intercommunal, 40 Avenue de Verdun, 94010, Créteil, France. marion.gerard@chicreteil.fr |
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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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