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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...
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...
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...
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...
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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Related Experiment Video

Updated: Jul 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Dandy-Walker syndrome and chromosomal abnormalities.

George Imataka1, Hideo Yamanouchi, Osamu Arisaka

  • 1Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan. geo@dokkyomed.ac.jp

Congenital Anomalies
|November 9, 2007
PubMed
Summary

Dandy-Walker syndrome (DWS) is a brain malformation linked to chromosomal abnormalities. This review surveys known genetic links, including trisomy 18, highlighting chromosomes 3, 9, 13, and 18.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Neurology

Background:

  • Dandy-Walker syndrome (DWS) is a congenital brain malformation with an unclear cause.
  • Existing research suggests a connection between DWS and chromosomal abnormalities or malformation syndromes.

Purpose of the Study:

  • To conduct a bibliographical survey of chromosomal abnormalities associated with DWS.
  • To present a case of DWS in the context of trisomy 18.
  • To summarize other known chromosomal abnormalities and congenital malformation syndromes linked to DWS.

Main Methods:

  • Literature review of published reports on chromosomal abnormalities and DWS.
  • Inclusion of a specific case study involving DWS and trisomy 18.

Main Results:

  • DWS is associated with various chromosomal abnormalities.
  • Chromosomes 3, 9, 13, and 18 are frequently reported in association with DWS.
  • The study includes a case of DWS with trisomy 18.

Conclusions:

  • Chromosomal abnormalities represent a significant factor in the etiology of DWS.
  • Further research into genetic factors is crucial for understanding and managing DWS.
  • The review consolidates current knowledge on genetic links to DWS.