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Related Concept Videos

Nondisjunction01:29

Nondisjunction

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.
Nondisjunction01:21

Nondisjunction

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 sister...
Nondisjunction01:29

Nondisjunction

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.
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...
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.
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.

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Related Experiment Video

Updated: Jun 17, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

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

Turner syndrome and its variants.

R Bharath1, A G Unnikrishnan, M V Thampy

  • 1Department of Diabetes and Endocrinology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

Indian Journal of Pediatrics
|December 17, 2009
PubMed
Summary

This study highlights diagnostic delays and varied clinical presentations in Turner syndrome variants. Patients with variant karyotypes experienced longer diagnosis times and sometimes lacked typical physical signs.

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Turner syndrome is a chromosomal condition affecting females, characterized by a missing or incomplete X chromosome.
  • Karyotype variations exist, potentially influencing clinical presentation and diagnosis.
  • Early diagnosis is crucial for managing associated health conditions.

Purpose of the Study:

  • To compare clinical features and diagnostic timelines between classic Turner syndrome and its variants.
  • To identify potential differences in associated comorbidities between karyotype groups.

Main Methods:

  • Retrospective analysis of medical records for female patients with karyotype-proven Turner syndrome.
  • Categorization into classic Turner karyotype (Group 1) and variant karyotypes (Group 2).
  • Comparison of age at presentation, age at diagnosis, clinical stigmata, and comorbidities.

Main Results:

  • A median 3-year delay between presentation and diagnosis was observed in Group 2 (variant karyotypes).
  • Four patients in Group 2 lacked typical Turner syndrome stigmata.
  • Higher median Thyroid Stimulating Hormone levels were noted in Group 1 (classic karyotype).
  • Coarctation of the aorta and primary hypothyroidism were observed in both groups.

Conclusions:

  • Variant Turner syndrome karyotypes can lead to diagnostic delays and atypical presentations.
  • Clinical vigilance is essential for identifying Turner syndrome, even in the absence of classic stigmata.
  • Differences in thyroid function may exist between classic and variant Turner syndrome.