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Related Concept Videos

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.
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...
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.
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

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.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
X-linked Traits01:19

X-linked Traits

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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Related Experiment Video

Updated: Jul 5, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

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

Published on: September 16, 2019

Fragile X and reproduction.

J Ryan Martin1, Aydin Arici

  • 1Division of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06520-8063, USA. ryan.martin@yale.edu

Current Opinion in Obstetrics & Gynecology
|May 8, 2008
PubMed
Summary

Fragile X syndrome impacts human reproduction, causing infertility and premature ovarian failure. Genetic counseling is crucial for families with Fragile X mutations to ensure informed reproductive decisions.

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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

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Last Updated: Jul 5, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

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

Published on: September 16, 2019

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
11:10

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

Published on: July 6, 2022

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Neurology

Background:

  • Fragile X syndrome is the leading inherited cause of intellectual disability and a common genetic cause of autism.
  • The Fragile X mutation has varying effects, from intellectual disability and autism in its full form to neurological disorders and reproductive issues in its premutation form.

Purpose of the Study:

  • To review recent literature on Fragile X.
  • To examine the genotypic and phenotypic implications of Fragile X on human reproduction.

Main Methods:

  • Literature review of recent studies on Fragile X.
  • Analysis of genotypic and phenotypic data related to human reproduction.

Main Results:

  • Fragile X is a significant cause of premature ovarian failure and irregular menses, impacting fertility.
  • The premutation can lead to fragile X-associated tremor/ataxia, macroorchidism, and premature ovarian failure.
  • Genetic and preconceptual counseling are recommended for carriers of Fragile X premutation or full mutation.

Conclusions:

  • Identifying patients who require Fragile X testing is essential for effective reproductive counseling.
  • Informing patients about reproductive risks and options empowers them to make educated decisions.
  • Early recognition and counseling can improve reproductive outcomes for individuals and families affected by Fragile X.