Article
[Genetic analysis of a case with 2q37 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2022
Lian Xiaohui, Zhang Xiao, Huang Mingyan, Lin Juan, Zeng Jian
Abstract excerpt
OBJECTIVE: To diagnose and fine map a deletion in chromosome region 2q37. METHODS: G-banded chromosomal karyotyping, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism array (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in conjunct for the analysis. RESULTS: The patient was found to have karyotype of 46,XY,del(2)(q3?), MLPA revealed one copy...
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