A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.

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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

González-del Angel A,Estandia-Ortega B,Gaviño-Vergara A,Sáez-de-Ocariz M,Velasco-Hernández Mde L,Salas-Labadía C

doi

10.1111/pde.12339

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

580-3

issue

5

eissn

0736-8046

issn

1525-1470

journal_volume

31

pub_type

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