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Related Concept Videos

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.
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.
Nondisjunction01:21

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.
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...

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Updated: May 8, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Two new cases with Costello syndrome.

Sema Aytekin1, Gokcen Alyamac

  • 1Dicle University.

Dermatology Online Journal
|September 12, 2013
PubMed
Summary

Costello syndrome (CS) is a rare genetic disorder characterized by developmental delays and distinctive physical features. This report details two new cases, one with an unusual mesenteric cyst complication.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Costello syndrome (CS) is a rare genetic disorder first described in 1977.
  • It is characterized by specific physical anomalies including short stature, redundant skin, curly hair, and developmental delays.

Observation:

  • This report presents two new cases of Costello syndrome.
  • One patient exhibited an uncommon associated finding: a mesenteric cyst.

Findings:

  • The study expands the clinical description of Costello syndrome.
  • It highlights the potential for associated gastrointestinal anomalies, such as mesenteric cysts, in CS patients.

Implications:

  • Increased awareness of Costello syndrome and its varied clinical presentations is crucial for timely diagnosis.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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  • Recognizing associated conditions like mesenteric cysts can improve patient management and outcomes.