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Related Concept Videos

Oppositional Defiant Disorder01:30

Oppositional Defiant Disorder

A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
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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

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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.
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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Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
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Published on: December 11, 2009

Olmsted syndrome.

Pramod Kumar1, P K Sharma, H K Kar

  • 1Department of Dermatology, Dr. Ram Manohar Lohia Hospital, New Delhi, India. kumarpramod5@rediffmail.com

Indian Journal of Dermatology
|November 3, 2009
PubMed
Summary
This summary is machine-generated.

Olmsted syndrome, a rare disorder, involves skin plaques and palmoplantar keratoderma. This report details a unique case in a young Indian female, highlighting associated hair and mobility issues.

Keywords:
GenodermatosisOlmsted syndromehypotrichosisonychodystrophypalmoplantar keratoderma

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09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Dermatology
  • Genetics

Background:

  • Olmsted syndrome is a rare genodermatosis.
  • It is characterized by periorificial keratotic plaques and palmoplantar keratoderma.
  • The condition is exceptionally rare in females.

Purpose of the Study:

  • To report a rare case of Olmsted syndrome in a pediatric female patient.
  • To describe the clinical presentation and associated features.
  • To contribute to the understanding of Olmsted syndrome in diverse populations.

Main Methods:

  • Case report and clinical observation.
  • Detailed patient history and physical examination.
  • Review of existing literature on Olmsted syndrome.

Main Results:

  • A six-year-old Indian girl presented with congenital keratoderma of soles and acquired keratoderma of palms.
  • Perioral and perinasal hyperkeratosis and sparse, thin hair were noted.
  • Keratoderma significantly impacted mobility after 18 months of age.

Conclusions:

  • This case highlights the variability of Olmsted syndrome presentation.
  • Early diagnosis and management are crucial for affected children.
  • Further research is needed to elucidate the genetic basis and long-term prognosis.