帕利斯特-基利安综合征：腭裂和骶部附属物的其他表现

McLeod D R, Wesselman L R, Hoar D I

Department of Paediatrics, Faculty of Medicine, University of Calgary, Alberta Children's Hospital, Canada.

J Med Genet. 1991 Aug;28(8):541-3. doi: 10.1136/jmg.28.8.541.

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.

我们报告了一例妊娠28周婴儿的帕利斯特-基利安综合征。除了典型的表型外，该患者还患有腭裂、膈疝、骶部附器和肛门闭锁。淋巴细胞核型显示96%为46,XX/4%为47,XX+i(12p)，成纤维细胞核型为47,XX,+标记（推测为i(12p)）。对于所有伴有其他畸形的膈疝病例，均应考虑进行成纤维细胞细胞遗传学研究。