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Related Concept Videos

X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
X-inactivation01:58

X-inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
X and Y Chromosomes02:32

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
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.
Nondisjunction01:21

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...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Related Experiment Video

Updated: Jun 18, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

Cortical anatomy in human X monosomy.

Armin Raznahan1, William Cutter, Francois Lalonde

  • 1Department of Child Psychiatry, Institute of Psychiatry, King's College London, UK. raznahana@mail.nih.gov

Neuroimage
|December 2, 2009
PubMed
Summary

Turner syndrome (TS) involves X chromosome absence, leading to distinct brain structure changes. Surface-based morphometry revealed increased cortical thickness and decreased surface area in TS, impacting neurodevelopment.

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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

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Published on: April 7, 2023

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development
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12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • Turner syndrome (TS) offers insights into X chromosome effects on neurodevelopment due to X monosomy.
  • Previous brain imaging in TS primarily used manual methods or VBM, limiting analysis of cortical volume determinants.

Purpose of the Study:

  • To investigate neurodevelopmental alterations in Turner syndrome using surface-based morphometry (SBM).
  • To compare cortical thickness (CT) and surface area (SA) between adults with TS and healthy controls.

Main Methods:

  • Employed SBM to analyze lobar cortical volume (CV), CT, and SA in 24 adults with X monosomy and 19 controls.
  • Assessed hemispheric gyrification, cortical sheet CT, and inter-regional CT correlations.

Main Results:

  • Females with TS exhibited increased parietal and occipital CT and decreased SA, with no significant lobar CV difference.
  • Reduced bilateral hemispheric gyrification was observed in TS.
  • Foci of increased CT were identified in temporal, occipital, intraparietal sulcus, cingulate, and orbitofrontal cortices.
  • Decreased CT correlation between the left intraparietal sulcus and other regions was noted in TS.

Conclusions:

  • Turner syndrome presents complex, opposing abnormalities in SA/gyrification (decreased) and CT (increased), potentially masking overall CV changes.
  • X chromosome gene haploinsufficiency may differentially affect SA and CT mechanisms.
  • CT disruptions are most pronounced in brain regions linked to the TS cognitive phenotype.