一名患有13三体嵌合体的患者，具有不寻常的皮肤色素沉着模式且生存期延长。
A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.
作者信息
González-del Angel Ariadna, Estandia-Ortega Bernardette, Gaviño-Vergara Alejandro, Sáez-de-Ocariz Marimar, Velasco-Hernández María de la Luz, Salas-Labadía Consuelo
机构信息
Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Distrito Federal, México.
出版信息
Pediatr Dermatol. 2014 Sep-Oct;31(5):580-3. doi: 10.1111/pde.12339. Epub 2014 May 20.
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.
13三体综合征，即帕陶综合征，是一种染色体疾病，可呈完全型、部分型或嵌合型。13三体综合征患者中6%可见嵌合现象，与完全型不同，嵌合型具有广泛的表型变异性、较长的生存期，部分患者还具有类似叶状色素减退症的异常皮肤色素沉着模式。我们在此描述一名患有13三体综合征嵌合型（mos 47,XX,+13[9]/46,XX[16]）的12岁女孩，她有三种主要畸形、异常的皮肤色素沉着模式且生存期延长。
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