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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders01:43

Sex-linked Disorders

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.
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.
Sex Linked Disorders01:43

Sex Linked Disorders

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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Related Experiment Video

Updated: Jun 14, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

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[22q11 deletion syndrome: considerable phenotype variability].

Peter Agergaard1, Charlotte Olesen

  • 1Børneafdelingen, Regionshospitalet Viborg, DK-8800 Viborg, Denmark. peteragergaard@dadlnet.dk

Ugeskrift for Laeger
|March 31, 2010
PubMed
Summary

22q11 deletion syndrome, a common genetic disorder, often presents with developmental delays and cognitive issues. Early diagnosis is crucial for managing symptoms and supporting affected individuals and families.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • 22q11 deletion syndrome affects 1 in 2000-4000 live births.
  • Commonly associated with cardiac defects, hypocalcemia, and immunodeficiency.

Observation:

  • Presents two cases highlighting rhinopharyngeal insufficiency.
  • Observed significant cognitive impairment, developmental delay, and behavioral problems in these cases.

Findings:

  • Rhinopharyngeal insufficiency, cognitive impairment, developmental delay, and behavioral issues are frequent manifestations of 22q11 deletion syndrome.
  • These neurological and developmental symptoms may be more prevalent than previously recognized cardiac or immune issues.

Implications:

  • Emphasizes the importance of early diagnosis for 22q11 deletion syndrome.
  • Facilitates timely intervention to prevent complications and provide essential patient and family support.