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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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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 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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Pedigree Analysis01:35

Pedigree Analysis

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Overview
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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.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
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Related Experiment Video

Updated: Aug 6, 2025

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

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A DMD case caused by X chromosome rearrangement.

Hao Hu1,2, Xiao-Wen Yang1,2, De-Hua Cheng1,2

  • 13. CITIC Xiangya Reproductive and Genetic Hospital, Changsha 410078, China.

Yi Chuan = Hereditas
|March 17, 2023
PubMed
Summary

Duchenne/Becker muscular dystrophy (DMD/BMD) can be caused by X chromosome structural rearrangements disrupting the DMD gene. This case highlights the importance of karyotyping and sequencing for diagnosing unknown genetic defects in DMD/BMD patients.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Background:

  • Duchenne/Becker muscular dystrophy (DMD/BMD) is a common X-linked recessive disorder.
Keywords:
DMDFISHbreakpoint analysiskaryotypestructural rearrangement

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  • Genetic defects, primarily in the DMD gene, cause DMD/BMD.
  • Chromosomal structural rearrangements are rare causes of DMD/BMD.