Mosaic trisomy 15 and hemihypertrophy.
Ann Genet
; 44(3): 143-8, 2001.
Article
em En
| MEDLINE
| ID: mdl-11694227
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 15
/
Hipertrofia
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article