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Related Concept Videos

X and Y Chromosomes02:32

X and Y Chromosomes

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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...
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Karyotyping01:17

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Overview
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Genetic Material01:20

Genetic Material

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Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
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The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
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Nondisjunction01:21

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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...
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Meiosis I01:49

Meiosis I

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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Related Experiment Video

Updated: Oct 11, 2025

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

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Y Chromosome Material in Turner Syndrome.

Abdullah Baris Akcan1, Osman K Boduroğlu2

  • 1Department of Pediatrics, Division of Neonatology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, TUR.

Cureus
|December 6, 2021
PubMed
Summary

Turner syndrome (TS) patients should be screened for Y chromosome presence. Detecting Y chromatin in TS individuals is crucial for identifying gonadoblastoma risk and guiding clinical management.

Keywords:
fishgonadoblastomamosaicismturner syndromey chromosome

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Area of Science:

  • Genetics
  • Human Chromosomal Abnormalities
  • Molecular Diagnostics

Background:

  • Turner syndrome (TS) is a common chromosomal disorder affecting females, characterized by distinct physical features and gonadal abnormalities.
  • While most TS cases involve a 45,X karyotype, a subset harbors Y chromosome material, often undetected by standard methods.
  • The presence of Y chromatin in TS is linked to an increased risk of gonadoblastoma, necessitating careful screening.

Purpose of the Study:

  • To investigate the prevalence of Y chromosome mosaicism in Turner syndrome patients using advanced molecular techniques.
  • To highlight the importance of screening for Y chromatin in TS for risk assessment and clinical management.

Main Methods:

  • Fluorescence in situ hybridization (FISH) analysis was employed using Y whole chromosome probes.
  • The study involved 28 patients diagnosed with Turner syndrome.

Main Results:

  • The majority of participants (71.42%) presented with the classical 45,X karyotype.
  • Y chromosome sequences were detected in one out of 28 (3.5%) Turner syndrome patients.

Conclusions:

  • Routine screening for Y chromatin in Turner syndrome patients is recommended.
  • Early detection of Y chromatin provides critical information for managing gonadoblastoma risk and informing patient care.