A Patient with Trisomy 13 Mosaicism with an Unusual Skin Pigmentary Pattern and Prolonged Survival
Article first published online: 20 MAY 2014
© 2014 Wiley Periodicals, Inc.
Volume 31, Issue 5, pages 580–583, September/October 2014
How to Cite
González-del Angel, A., Estandia-Ortega, B., Gaviño-Vergara, A., Sáez-de-Ocariz, M., Velasco-Hernández, M. d. l. L. and Salas-Labadía, C. (2014), A Patient with Trisomy 13 Mosaicism with an Unusual Skin Pigmentary Pattern and Prolonged Survival. Pediatric Dermatology, 31: 580–583. doi: 10.1111/pde.12339
- Issue published online: 4 SEP 2014
- Article first published online: 20 MAY 2014
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,+13/46,XX) who had three major malformations, an unusual skin pigmentary pattern, and prolonged survival.