帕利斯特-基利安综合征：合并松果体瘤的病例报告
Pallister-Killian syndrome: case report with pineal tumor.
作者信息
Mauceri L, Sorge G, Incorpora G, Pavone L
机构信息
Division of Pediatric Neurology, University of Catania, Catania, Italy.
出版信息
Am J Med Genet. 2000 Nov 6;95(1):75-8. doi: 10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j.
Abstract
Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.
摘要
帕利斯特-基利安综合征是一种非整倍体综合征，其特征包括特殊面容、智力发育迟缓以及多种其他异常。它由嵌合体和额外的等臂染色体12p引起。这种染色体异常在人类生殖细胞肿瘤中也有报道。我们报告了一名患有帕利斯特-基利安综合征和松果体瘤的15岁女孩。
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