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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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...
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
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.

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Updated: May 13, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

Genome-wide androgenetic mosaicism.

J P Johnson1, J Waterson, C Schwanke

  • 1Medical Genetics, Shodair Children's Hospital, Helena, MT, USA.

Clinical Genetics
|March 21, 2013
PubMed
Summary
This summary is machine-generated.

Mosaic paternal uniparental disomy (UPD) affects multiple chromosomes, causing conditions like Beckwith-Wiedemann syndrome and Angelman syndrome. This case highlights the need for comprehensive genetic testing in complex pediatric cases.

Keywords:
Beckwith-Wiedemann syndromeandrogeneticimprintingmosaicismuniparental paternal disomy

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Area of Science:

  • Genetics
  • Epigenetics
  • Pediatrics

Background:

  • Mosaic paternal uniparental disomy (UPD) involves a mix of normal cells and cells with two paternal copies of a chromosome.
  • Recent studies describe individuals with mosaic paternal UPD affecting multiple chromosomes.

Observation:

  • An infant presented with Beckwith-Wiedemann syndrome (BWS) features and severe, refractory hypoglycemia.
  • Initial methylation studies for BWS incidentally tested for Angelman syndrome (AS).

Findings:

  • The infant exhibited hypomethylation consistent with both BWS and AS.
  • Genetic analysis revealed mosaic paternal UPD for chromosomes 11 (BWS) and 15 (AS).
  • SNP microarray analysis indicated mosaic paternal UPD across all chromosomes.

Implications:

  • Unusual imprinting disorder phenotypes warrant broader genetic investigation beyond typical loci.
  • Chromosome SNP microarrays are crucial for detecting multiple UPDs, including whole-genome UPD.
  • This case underscores the diagnostic utility of comprehensive genetic testing in infants with complex medical issues.