Article
[Analysis of a female with a peripheral blood lymphocytic karyotype of trisomy 18 but normal intelligence].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020
Gao Jian, Yu Xiaoping, Rong Limin, Mei Bing
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a female with a peripheral lymphocyte karyotype of trisomy 18 but normal intelligence. METHODS: G-banding karyotype analysis, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism microarray (SNP array) were employed to analyze the peripheral blood sample and buccal cells from the patient. RESULTS: Chromosomal karyotyping, SNP array and FISH...
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