A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.
Pediatr Dermatol
; 31(5): 580-3, 2014.
Article
em En
| MEDLINE
| ID: mdl-24846410
ABSTRACT
Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern similar to phylloid hypomelanosis. We describe here a 12-year-old girl with trisomy 13 mosaicism (mos 47,XX,+13[9]/46,XX[16]) who had three major malformations, an unusual skin pigmentary pattern, and prolonged survival.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Transtornos Cromossômicos
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article