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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,...
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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.
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Dissociative Identity Disorder (DID), previously termed multiple personality disorder, is a complex psychological condition characterized by the presence of two or more distinct identities or personality states. Each identity exhibits unique patterns of behavior, voice, and mannerisms and may possess separate memories and emotional responses. The alternating control between identities can result in memory gaps and challenges in recalling daily activities, often exacerbating the individual's...
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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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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Related Experiment Video

Updated: May 16, 2025

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Möbius Syndrome With Possible Poland Syndrome Overlap: A Case Report.

Richa Agarwal1, Manish Kumar2, Abhimanyu Vasudeva3

  • 1Ophthalmology, All India Institute of Medical Sciences, Gorakhpur, IND.

Cureus
|April 2, 2025
PubMed
Summary

Möbius syndrome (MBS), a rare neurological disorder, involves facial paralysis and limited eye movement due to nerve underdevelopment. This case highlights its overlap with Poland syndrome, emphasizing the need for comprehensive evaluation.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Möbius syndrome (MBS) is a rare congenital neurological disorder characterized by facial nerve (CN VII) and abducens nerve (CN VI) underdevelopment.
Keywords:
abducens nerveeye movementsfacial asymmetrypectoralis musclespoland syndrome

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  • It presents with facial paralysis, limited eye abduction, and potential musculoskeletal and neurodevelopmental issues.
  • Neuroimaging often reveals brainstem hypoplasia and a flattened fourth ventricle floor.