A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay

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• 作者：Kye Hee Cho ; Sung Han Shim ; MinYoung Kim
• 关键词：De novo complex chromosomal rearrangement ; Microdeletion ; Global developmental delay ; Dysmorphism
• 刊名：Genes & Genomics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：39
• 期：2
• 页码：121-126
• 全文大小：
• 刊物主题：Microbial Genetics and Genomics; Plant Genetics & Genomics; Animal Genetics and Genomics; Human Genetics;
• 出版者：The Genetics Society of Korea
• ISSN：2092-9293
• 卷排序：39

文摘

A de novo complex chromosomal rearrangement is very rare but likely to be present in a child with developmental disabilities and physical alterations. A child presented in this study showed global developmental delay and some typical phenotypes. Initial karyotyping and FISH analysis in the patient showed an apparently de novo balanced translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2). Further analysis using multiplex ligation-dependent probe amplification and array-based comparative genomic hybridization revealed a cryptic microdeletion on 3p13 region. Nearly one-third of balanced rearrangements are reported to involve cryptic disruptions at breakpoints, however, the microdeletion of the proposita was present in non-translocated region of the chromosome 3. After careful reevaluation of the results, a pericentric inversion, inv(3)(p13q13.1) that induced deletion was revealed. The clinical features of developmental delay in cognition, language, and motor function and facial and physical phenotype of the proposita were similar to those found in the children with 3p13 deletion. This case shows that combined molecular cytogenetic techniques with routine karyotyping are very useful to identify subtle genomic changes associated with abnormal phenotypes.