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Sex-linked Disorders01:43

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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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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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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.
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Related Experiment Video

Updated: Nov 13, 2025

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

D A Leichtman, R D Schmickel, T D Gelehrter

    Annals of Internal Medicine
    |October 1, 1978
    PubMed
    Summary

    Familial Turner syndrome resulted from a deleted short arm of the X chromosome, transmitted via carriers with a balanced X-1 translocation. This highlights the importance of studying families with chromosomal abnormalities for potential transmission.

    Area of Science:

    • Genetics
    • Human Genetics
    • Cytogenetics

    Background:

    • Turner syndrome is a genetic condition affecting females.
    • This study investigates a specific family with a high incidence of Turner syndrome across three generations.
    • The research focuses on the chromosomal basis of the observed Turner phenotype.

    Observation:

    • Seven women across three generations presented with Turner syndrome.
    • A deletion of the entire short arm of one X chromosome was identified as the cause of the Turner phenotype in this family.
    • The deletion was found to be transmitted by carriers of a balanced X-1 translocation.

    Findings:

    • Autoradiography revealed late labeling of the deleted X chromosome in individuals with Turner syndrome.
    • In carriers of the balanced translocation, the normal X chromosome exhibited late replication.

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  • Erythrocyte Xga typing suggests the Xg locus is situated on the short arm of the X chromosome.

    • Implications:

    • The findings indicate a familial transmission pattern for Turner syndrome due to structural chromosomal abnormalities.
    • Genetic counseling and family studies are crucial for identifying carriers and affected individuals.
    • Understanding familial transmission of chromosomal abnormalities is vital for reproductive planning and clinical management.