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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
The canonical paradigm for converting genetic association to mechanism involves iteratively map** individual associations to the proximal genes...
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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome map** and whole genome sequencing
Highly identical segmental duplications (SDs) account for over 5% of the human genome and are enriched in the short arm of the chromosome 16. These...
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Ring Chromosome 16
Ring chromosome 16 (RC16) is an ultra-rare chromosomal structural abnormality with only eight cases reported in the literature. Included in this case...
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Chromosome evolution screens recapitulate tissue-specific tumor aneuploidy patterns
Whole chromosome and arm-level copy number alterations occur at high frequencies in tumors, but their selective advantages, if any, are poorly...
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An acquired high-risk chromosome instability phenotype in multiple myeloma: Jum** 1q Syndrome
Patients with multiple myeloma (MM) accumulate adverse copy number aberrations (CNAs), gains of 1q21, and 17p deletions during disease progression. A...
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Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability
BackgroundThe U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM - MLLT10 fusion gene formed by the recurrent...
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Aneuploidy as a promoter and suppressor of malignant growth
Aneuploidy has been recognized as a hallmark of tumorigenesis for more than 100 years, but the connection between chromosomal errors and malignant...
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Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues
Acquired Ring Chromosomes (aRCs) are observed in various oncologic diseases. This chapter systematically curates the types of aRCs observed in...
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Gene expression profiles in genome instability-based classes of colorectal cancer
BackgroundBroad copy number aberrations (BCNAs) represent a common form of genome instability in colorectal cancer (CRC). CRCs show large variations...
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Identification of novel genomic imbalances in Saudi patients with congenital heart disease
BackgroundQuick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy...
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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
BackgroundChromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual...
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Analysis of Chromothripsis by Combined FISH and Microarray Analysis
Fluorescence in situ hybridization (FISH) to metaphase chromosomes, in conjunction with SNP array, array CGH, or whole genome sequencing, can help...
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
PurposeGermline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar...
