Mosaic trisomy 15 and hemihypertrophy

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. P...

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Veröffentlicht in:	Annales de génétique 2001-07, Vol.44 (3), p.143-148
Hauptverfasser:	Gérard-Blanluet, Marion, Elbez, Annie, Bazin, Anne, Danan, Claude, Verloes, Alain, Janaud, Jean-Claude
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amniocentesis Biological and medical sciences Child, Preschool Chromosome aberrations chromosome abnormality Chromosome Banding Chromosomes, Human, Pair 15 Female hemihypertrophy Humans Hypertrophy - diagnosis Hypertrophy - genetics Intellectual Disability - genetics Male Medical genetics Medical sciences mental retardation Mosaicism Phenotype Syndrome Trisomy trisomy 15 Uniparental Disomy
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