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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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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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

Genomic disorders on chromosome 22.

Shihui Yu1, William D Graf, Robert J Shprintzen

  • 1Department of Laboratory Medicine and Pathology, Seattle Children's Hospital and Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.

Current Opinion in Pediatrics
|November 1, 2012
PubMed
Summary

Genomic variations on chromosome 22, including velocardiofacial syndrome (VCFS), are common due to repeat sequences. Despite extensive research, translational studies and treatment outcomes for these chromosome 22 disorders remain limited.

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Chromosome 22 is prone to genomic alterations, particularly copy-number variants (CNVs), due to repetitive sequences facilitating meiotic recombination.
  • Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome or DiGeorge syndrome, is a common microdeletion syndrome associated with chromosome 22.

Purpose of the Study:

  • To review recent literature on the molecular and clinical aspects of chromosome 22 genomic variations.
  • To highlight the limited progress in translational research and treatment outcomes for chromosome 22 disorders.

Main Methods:

  • Review of recent scientific literature on chromosome 22 genomic variations.
  • Analysis of molecular and clinical data, including copy-number variants (CNVs) and gene effects.

Main Results:

  • Microarray analysis is increasingly elucidating CNVs on chromosome 22.
  • Research on the COMT gene suggests a potential sex-mediated effect.
  • Limited treatment outcome data exists for neuropsychiatric disorders in VCFS, with small sample sizes and short follow-up.

Conclusions:

  • Despite numerous studies, translational research for chromosome 22 genomic disorders, including VCFS, has seen minimal progress.
  • Further research is needed to bridge the gap between genomic findings and clinical treatment outcomes.