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 Dermatoljournal_title
Pediatric dermatologyauthors
González-del Angel A,Estandia-Ortega B,Gaviño-Vergara A,Sáez-de-Ocariz M,Velasco-Hernández Mde L,Salas-Labadía Cdoi
10.1111/pde.12339subject
Has Abstractpub_date
2014-09-01 00:00:00pages
580-3issue
5eissn
0736-8046issn
1525-1470journal_volume
31pub_type
杂志文章abstract::Two unrelated Hispanic females, ages 4 and 3 years, respectively, each presented with a solitary patch of excessive terminal hair growth in the midline of the neck. This rare form of congenital localized hypertrichosis, known as anterior cervical hypertrichosis, is reported here as an isolated defect with no other und...
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