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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.
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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.
Genetic Lingo01:11

Genetic Lingo

Overview

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Related Experiment Video

Updated: Jun 12, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Bloom syndrome in two siblings.

Sheikh Javeed Sultan1, Sheikh Tariq Sultan

  • 1SKIMS Medical College, Srinagar, Kashmir, India. sjsultan@gmail.com

Pediatric Dermatology
|June 12, 2010
PubMed
Summary
This summary is machine-generated.

Bloom syndrome, a rare genetic disorder causing growth issues and cancer susceptibility, was identified in two Kashmiri brothers. Early diagnosis and management are crucial for affected individuals with this rare condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Bloom syndrome is a rare autosomal recessive disorder.
  • It is characterized by telangiectasias, photosensitivity, growth deficiency, immunodeficiency, and cancer predisposition.

Observation:

  • Two brothers from Kashmir, aged 8 and 6, presented with symptoms suggestive of Bloom syndrome.
  • Clinical manifestations included erythematous facial rashes, photosensitivity, and growth retardation.

Findings:

  • The case report details the presentation of Bloom syndrome in pediatric patients from the Kashmir region.
  • This highlights the geographic distribution and clinical variability of the disorder.

Implications:

  • Early diagnosis of Bloom syndrome is essential for timely intervention and management.
  • Understanding the genetic and clinical spectrum aids in patient care and genetic counseling.