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Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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...
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.
Nondisjunction01:29

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.
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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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

[22q11 deletion syndrome].

Charlotte Olesen1, Peter Agergaard, Maria Boers

  • 1Børneafdelingen, Arhus Universitetshospital, Skejby, DK-8200 Arhus N, Denmark. Charlotte.Olesen@dadlnet.dk

Ugeskrift for Laeger
|March 31, 2010
PubMed
Summary

22q11 deletion syndrome, a genetic disorder, presents with diverse symptoms across multiple organ systems. This review details its manifestations and proposes diagnostic and treatment strategies for Danish patients.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Context:

  • 22q11 deletion syndrome affects 1 in 2000-4000 children.
  • The genetic cause is a deletion in the 22q11.2 region.
  • Clinical features are highly variable.

Purpose:

  • To review the diverse clinical manifestations of 22q11 deletion syndrome.
  • To outline diagnostic and treatment strategies for Danish patients.

Summary:

  • 22q11 deletion syndrome involves deletions in the 22q11.2 region.
  • Manifestations vary significantly among affected individuals.
  • The review covers clinical features and management approaches.

Impact:

  • Provides a comprehensive overview for clinicians.
  • Aids in the diagnosis and management of 22q11 deletion syndrome.
  • Offers specific guidance for the Danish healthcare system.