Mosaic trisomy 15 and hemihypertrophy
| Autor: | Annie Elbez, Anne Bazin, Marion Gérard-Blanluet, Alain Verloes, Jean-Claude Janaud, Claude Danan |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Aneuploidy Trisomy Biology Chromosome 15 Intellectual Disability Genetics medicine Humans Hemihypertrophy Chromosomes Human Pair 15 medicine.diagnostic_test Mosaicism Karyotype Hypertrophy Syndrome Uniparental Disomy medicine.disease Uniparental disomy Chromosome Banding Phenotype Child Preschool Amniocentesis Chromosome abnormality Female |
| Zdroj: | Annales de genetique. 44(3) |
| ISSN: | 0003-3995 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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