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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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Infertility in Males01:23

Infertility in Males

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Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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X and Y Chromosomes02:32

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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.
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The Y Chromosome Determines Maleness02:19

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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.
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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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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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Updated: Jun 13, 2025

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
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Chromosome defects and male factor infertility.

Dolores J Lamb1

  • 1Division of Pediatric Urology, Department of Surgery, Children's Research Institute, Children's Mercy Hospital and University of Missouri School of Medicine-Kansas City, Kansas City, Missouri.

Fertility and Sterility
|May 1, 2025
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Summary

Chromosomal anomalies significantly contribute to male infertility, affecting about 6% of affected men. Expanding genetic testing beyond current guidelines can improve diagnosis and treatment for couples facing infertility.

Keywords:
Male infertilityclinical impactdiagnosisinterpretation of diagnosis

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Area of Science:

  • Genetics
  • Reproductive Medicine
  • Urology

Background:

  • Routine semen analysis and endocrine evaluation are standard for male infertility.
  • Recent guidelines emphasize assessing chromosomal anomalies in men with spermatogenic failure.
  • Chromosomal abnormalities are a significant, yet often overlooked, cause of male factor infertility.

Purpose of the Study:

  • To review chromosomal anomalies as a cause of male factor infertility.
  • To explain technical approaches for identifying chromosomal defects.
  • To discuss the clinical consequences of these abnormalities for male infertility.

Main Methods:

  • Narrative review of existing literature on chromosomal anomalies and male infertility.
  • Analysis of current diagnostic guidelines and their limitations.
  • Discussion of various cytogenetic anomalies, including numerical and structural defects.

Main Results:

  • Karyotype anomalies are found in approximately 6% of men with infertility.
  • Numerical anomalies include Klinefelter syndrome and other sex chromosome aneuploidies.
  • Structural anomalies (translocations, inversions, etc.) can cause diverse sperm defects and impact offspring health.

Conclusions:

  • Current criteria for chromosomal assessment in male infertility may need expansion.
  • Testing should be considered for men with sperm counts below 20 million/mL, not just severe oligozoospermia.
  • Identifying chromosomal etiology improves understanding of infertility, guiding treatment and reproductive outcomes.