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Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
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.
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: Jul 12, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

[Goniodysgenesis associated with Rubinstein-Taybi syndrome].

M Wajda1, A Turno-Krecicka

  • 1Katedry i Kliniki Okulistycznej AM we Wrocławiu.

Klinika Oczna
|August 10, 2000
PubMed
Summary

Rubinstein-Taybi syndrome, a rare genetic disorder, can present with serious eye conditions like unilateral congenital glaucoma. Early and thorough eye exams are crucial for managing these associated ocular abnormalities.

Area of Science:

  • Ophthalmology
  • Clinical Genetics
  • Pediatrics

Background:

  • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, motor delays, distinct facial features, and broad thumbs/toes.
  • Ocular and adnexal abnormalities are frequently observed in RTS patients, encompassing conditions such as strabismus, ptosis, and congenital cataracts.

Observation:

  • This report details a case of a one-year-old male diagnosed with Rubinstein-Taybi syndrome.
  • The patient presented with unilateral congenital glaucoma, a less common but significant ocular finding in RTS.

Findings:

  • The case highlights the association of Rubinstein-Taybi syndrome with unilateral congenital glaucoma.
  • This underscores the variability and potential severity of ocular manifestations in RTS.

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Last Updated: Jul 12, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
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Puncture-Induced Iris Neovascularization as a Mouse Model of Rubeosis Iridis
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Reconstruct Human Retinoblastoma In Vitro
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Reconstruct Human Retinoblastoma In Vitro

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Implications:

  • Comprehensive ophthalmological evaluations are essential for all individuals diagnosed with Rubinstein-Taybi syndrome.
  • Early detection and management of rare ocular conditions like congenital glaucoma can improve patient outcomes.