1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems
نویسندگان
چکیده
منابع مشابه
Inversions with deletions and duplications.
Complex mutational events, including de novo inversion with deletion and duplication of sequence, have been observed but are difficult to model. We propose that nascent leading-strand misalignment upon the lagging-strand template during DNA replication can result in the inversion of sequence. The positioning of this misalignment and of the realignment of the leading strand back into the leading...
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We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene expression regulation, and therefore not only their deletion or duplication but also the resulting chimeric gene may contribute to the phenotype of t...
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Recently, detailed statistical analyses of sequenced genomes have provided support for the “evolution by duplication” theory proposed by S. Ohno. Based on Ohno’s theory, we suggest a parsimonious model consisting of substitutions, duplications, and deletions, and estimate the parameters of this model at various scales (word sizes) over several genomes. We conclude that deletions play as critica...
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Gene and chromosome duplications have been implicated as fundamental evolutionary mechanisms (Ohno et al.,1968; Li and Gojobori, 1983; Schughart et al., 1989). For the purpose of this chapter, duplications and deletions are defined as those too large to be routinely detected by sequencing or simple PCR-based methods (100 bp), but too small to be detected by conventional cytogenetic metaphase a...
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BACKGROUND X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants. METHODS Array CGH analysis was performed using chromosomal microarray with ∼105 000 oligonucleotides covering the entire genome. Confirmatory fluore...
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ژورنال
عنوان ژورنال: The Indian Journal of Pediatrics
سال: 2019
ISSN: 0019-5456,0973-7693
DOI: 10.1007/s12098-019-03014-2