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. 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.
Gérard-Blanluet
M
M
Service de Pédiatrie Néonatale, Centre Hospitalier Intercommunal, 40 Avenue de Verdun, 94010, Créteil, France. marion.gerard@chicreteil.fr
Elbez
A
A
Bazin
A
A
Danan
C
C
Verloes
A
A
Janaud
J C
JC
D000328:Adult; D000649:Amniocentesis; D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000175:diagnosis* / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy; D024182:Uniparental Disomy