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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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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.
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X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Pedigree Analysis01:35

Pedigree Analysis

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Overview
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X-Inactivation01:58

X-Inactivation

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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.
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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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The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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Related Experiment Video

Updated: Jul 17, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Fragile X Syndrome in children.

David O Acero-Garcés1, Wilmar Saldarriaga1,2, Ana M Cabal-Herrera3

  • 1Universidad del Valle, Facultad de Salud, Escuela de Medicina, Cali, Colombia.

Colombia Medica (Cali, Colombia)
|September 4, 2023
PubMed
Summary

Fragile X syndrome, the most common genetic cause of intellectual disability and autism, results from FMR1 gene silencing. Early diagnosis and a multidisciplinary approach are crucial for improving patient outcomes and quality of life.

Keywords:
Fragile X Syndromechilddevelopmental disabilitiesfragile x mental retardation proteinpediatrics

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Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Fragile X syndrome is a leading monogenic cause of intellectual disability and autism spectrum disorder.
  • It stems from CGG triplet expansions in the FMR1 gene, leading to gene silencing and FMRP protein absence.
  • This absence causes cellular dysfunction, impacting brain development and resulting in physical and neurological abnormalities.

Purpose of the Study:

  • To highlight the genetic basis and clinical manifestations of Fragile X syndrome.
  • To emphasize the importance of early diagnosis and molecular confirmation.
  • To advocate for a multidisciplinary approach in managing Fragile X syndrome.

Main Methods:

  • Review of genetic mechanisms underlying Fragile X syndrome.
  • Analysis of clinical and neurological presentations.
  • Discussion of diagnostic criteria and intervention strategies.

Main Results:

  • Fragile X syndrome is characterized by FMR1 gene silencing due to CGG expansions.
  • Clinical manifestations include neurodevelopmental delay, intellectual disability, and autism spectrum disorder.
  • Early identification and intervention significantly improve functional prognosis.

Conclusions:

  • Fragile X syndrome diagnosis should be considered in patients with neurodevelopmental delay.
  • Molecular testing is essential for confirmation.
  • A multidisciplinary healthcare approach is vital for optimizing quality of life for affected individuals and their families.