PMID: 11694227Nov 6, 2001Paper

Mosaic trisomy 15 and hemihypertrophy

Annales de génétique
M Gérard-BlanluetJ C Janaud

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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Citations

Apr 6, 2002·Annales de génétique·Annick VogelsKoen Devriendt
Jun 15, 2004·Clinical Dysmorphology·Sabine A Knauer-FischerBerthold P Hauffa
Aug 6, 2003·American Journal of Medical Genetics. Part a·Anne M SlavotinekMaximilian Muenke
Dec 13, 2007·American Journal of Medical Genetics. Part a·R VoigtG Gillessen-Kaesbach

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