Article
[Prenatal diagnosis of a case of Pallister-Killian syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2015
Xi Hui, Wang Hua, Jia Zhenjun, Zhou Yuchun, Yu Hong, Liu Jing, Wu Lingqian
Abstract excerpt
OBJECTIVE: To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease. METHODS: Standard G-banding was carried out for the patient and his parents. Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ...
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