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Related Concept Videos

Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

55.7K
In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Nondisjunction01:21

Nondisjunction

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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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Crossing Over01:30

Crossing Over

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Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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In-vitro Mutagenesis01:16

In-vitro Mutagenesis

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To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
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Karyotyping01:17

Karyotyping

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Overview
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Updated: Aug 22, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

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Do chromosomal inversion carriers really need preimplantation genetic testing?

Jing Tong1,2, Jianwei Jiang3, Yichao Niu1,2

  • 1Center for Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200135, China.

Journal of Assisted Reproduction and Genetics
|November 11, 2022
PubMed
Summary
This summary is machine-generated.

Chromosomal inversion carriers have lower-than-expected parental originating aneuploidy rates during preimplantation genetic testing for structural rearrangements (PGT-SR). Inversion type and sperm parameters did not impact embryo ploidy, suggesting natural conception may be an option for some couples.

Keywords:
AneuploidyChromosomal inversionEuploidyMosaicismPreimplantation genetic testing for structural rearrangements (PGT-SR)

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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FISH for Pre-implantation Genetic Diagnosis
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Area of Science:

  • Reproductive genetics
  • Human genetics
  • Embryology

Background:

  • Chromosomal inversions are balanced rearrangements affecting chromosome structure.
  • Preimplantation genetic testing for structural rearrangements (PGT-SR) is used to identify viable embryos in carriers.
  • Understanding aneuploidy and mosaicism rates in PGT-SR cycles is crucial for reproductive counseling.

Purpose of the Study:

  • To evaluate euploidy, aneuploidy, and mosaicism rates in PGT-SR cycles among chromosomal inversion carriers.
  • To assess factors influencing parental originating aneuploidy and mosaicism incidence in these cycles.

Main Methods:

  • Retrospective review of 71 PGT-SR cycles from 57 chromosomal inversion carrier couples (females <38 years).
  • Subgroup analysis based on carrier gender, inversion type, and male carrier semen parameters (male factor infertility or non-MF).
  • Comparison of patient demographics, cycle characteristics, and PGT-SR outcomes.

Main Results:

  • Among 283 blastocysts, 48.4% were euploid, 27.9% aneuploid, and 23.7% mosaic.
  • Parental inversion chromosomes were involved in 32.9% of aneuploid and 1.5% of mosaic embryos.
  • Female inversion carriers showed a higher incidence of parental originating aneuploid embryos than male carriers (45.5% vs 23.9%, p=0.044).

Conclusions:

  • Embryo ploidy status was not significantly affected by inversion type or male carrier sperm parameters.
  • The observed incidence of parental originating aneuploidy in inversion carrier couples is lower than anticipated.
  • For male carriers with normal sperm and female partners under 38, natural conception with prenatal diagnosis is a viable counseling option.