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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
MicroRNAs01:22

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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

Microdeletion and microduplication syndromes.

Anja Weise1, Kristin Mrasek, Elisabeth Klein

  • 1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany. Anja.Weise@mti.uni-jena.de

The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society
|March 8, 2012
PubMed
Summary
This summary is machine-generated.

Microdeletion and microduplication syndromes (MMSs) are increasingly identified through whole genome analysis. This review details known MMSs, their genetic causes, and diagnostic approaches for copy number variations.

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Area of Science:

  • Genetics
  • Genomics
  • Medical Diagnostics

Background:

  • Whole genome analysis, particularly array comparative genomic hybridization, has increased the identification of microdeletion and microduplication syndromes (MMSs).
  • These genomic alterations are linked to specific phenotypes and can involve reciprocal deletions or duplications within critical regions.
  • MMSs were previously referred to as "genomic disorders" or "contiguous gene syndromes".

Purpose of the Study:

  • To catalogue known microdeletion and microduplication syndromes (MMSs) and their associated critical regions and phenotypic consequences.
  • To discuss pathogenic pathways, detection methods, and limitations in identifying MMSs.
  • To highlight databases for differentiating benign from pathogenic copy number alterations.

Main Methods:

  • Literature review and synthesis of existing data on MMSs.
  • Analysis of diagnostic techniques for copy number variations.
  • Compilation of information on relevant genetic databases.

Main Results:

  • A comprehensive catalogue of known MMSs, critical regions, and phenotypic correlations is presented.
  • Pathogenic mechanisms underlying these rearrangements are discussed.
  • An overview of current detection methods and their limitations is provided.

Conclusions:

  • The growing number of identified MMSs necessitates standardized diagnostic approaches and databases.
  • Understanding the genetic basis and phenotypic impact of MMSs is crucial for accurate diagnosis and genetic counseling.
  • Available databases aid in interpreting copy number variations as benign or pathogenic.