Abstract：
Pallister-Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.
摘要：
Pallister-Killian综合征（PKS;OMIM#601803）是一种罕见的遗传性疾病，通常以发育迟缓为特征，癫痫发作,稀疏的颞叶毛发,和面部畸形。PKS最常见的原因是马赛克超数同工染色体12p。这里,我们报告了一名27个月大的女孩，其产前诊断为PKS，组织病理学诊断为松果细胞瘤。
