Article
A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies.
American journal of medical genetics. Part A - 1 Feb 2013
Zhu Haiyan, Hu Yali, Zhu Ruifang, Yang Ying, Zhu Xiangyu, Wang Wanjun
Abstract excerpt
Although many patients with duplication 3q syndrome have been described reports on duplication derivatives from an insertion are rare in the previous literature. Here we describe the genotype and phenotype of a 32-month-old boy with a partial trisomy of 3q24-q28. We carefully mapped the aberration with SNP-array analysis, and found a duplication region of 44 Mb. By conventional cytogenetic techniques including...
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