Article
[Phenotypic and genetic analysis of a boy with partial trisomy of 1q].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2017
Wu Dong, Zhang Hui, Wang Hongdan, Hou Qiaofang, Wang Tao, Li Tao, Yang Yanli, Liao Shixiu
Abstract excerpt
OBJECTIVE: To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities. METHODS: The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay. RESULTS: The karyotype of the proband was 46,XY,add(1)(p36.3). No...
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