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Related Concept Videos

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.
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...
Meiosis I03:09

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
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...

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Related Experiment Video

Updated: Jun 16, 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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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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Holoprosencephaly due to numeric chromosome abnormalities.

Benjamin D Solomon1, Kenneth N Rosenbaum, Jeanne M Meck

  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|January 28, 2010
PubMed
Summary

Holoprosencephaly (HPE) is a common forebrain malformation. Chromosome number abnormalities, like trisomy 13, are the most frequent cause of HPE and often lead to early fatality.

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Area of Science:

  • Developmental Biology
  • Clinical Genetics
  • Human Teratology

Background:

  • Holoprosencephaly (HPE) represents the most common congenital malformation of the human forebrain.
  • Identifying the etiology of HPE is crucial for genetic counseling and understanding disease prognosis.
  • Chromosome abnormalities are a significant contributor to HPE, necessitating prompt genetic evaluation.

Purpose of the Study:

  • To highlight the importance of chromosome analysis in patients diagnosed with Holoprosencephaly.
  • To review the common numerical chromosome abnormalities associated with HPE.
  • To correlate phenotypic features with specific chromosomal aberrations in HPE.

Main Methods:

  • Review of clinical cases diagnosed with Holoprosencephaly.
  • Analysis of routine chromosome studies performed on HPE patients.
  • Correlation of genetic findings with clinical presentations and outcomes.

Main Results:

  • Numerical chromosome abnormalities are the most frequent identified etiology in HPE.
  • Trisomy 13, trisomy 18, and triploidy are among the common chromosome number abnormalities associated with HPE.
  • Phenotypic manifestations can aid in recognizing specific chromosome number abnormalities in HPE.

Conclusions:

  • Routine chromosome analysis is a critical first-tier genetic test for HPE evaluation.
  • Understanding the spectrum of chromosome abnormalities in HPE is essential for clinical management.
  • Early identification of genetic causes impacts prognosis and genetic counseling for HPE cases.