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Karyotyping

Karyotyping

Karyotyping

Karyotyping

Nondisjunction

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...

Nondisjunction

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.

Nondisjunction

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.

Nucleosome Remodeling

Nucleosome Remodeling

Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...

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Related Experiment Video

Updated: May 9, 2026

Chromosome Preparation From Cultured Cells

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Association between selected structural defects and chromosomal abnormalities.

Sandra Acevedo-Gallegos¹, Mónica García, Andrés Benavides-Serralde

¹Departamento de Medicina Materno-Fetal. Unidad de Investigación en Medicina Fetal.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion

|July 24, 2013

Summary

Prenatal ultrasound detection of multiple structural abnormalities significantly increases the likelihood of chromosomal disorders, particularly when cardiac defects are present. Associated omphalocele showed a statistically significant link to chromosomal abnormalities.

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Last Updated: May 9, 2026

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Area of Science:

Medical Imaging
Genetics
Prenatal Diagnosis

Background:

Prenatal diagnosis relies on ultrasound to detect fetal structural abnormalities.
Chromosomal abnormalities are a significant cause of birth defects and developmental issues.
Identifying associations between specific structural defects and chromosomal disorders aids in risk assessment.

Purpose of the Study:

To investigate the relationship between major prenatal structural abnormalities identified via ultrasound and chromosomal abnormalities.
To calculate the odds ratio (OR) for isolated and combined anomalies associated with chromosomal disorders.

Main Methods:

Retrospective transversal study analyzing fetal follow-up records from 1994-2010.
Identified fetuses with holoprosencephaly, diaphragmatic hernia, omphalocele, cystic hygroma, hydrops, and cardiac defects.
Analyzed cases with prenatal invasive diagnostic procedures to determine OR for chromosomal abnormalities.

Main Results:

Out of 197 eligible patients, 88 had chromosomal abnormalities, with Trisomy 18 being most frequent (31.8%).
Nonisolated holoprosencephaly (OR=4.9), associated omphalocele (OR=7.63), and cardiac defects (OR=7.7) showed increased odds for aneuploidy.
Heart defects were common in Trisomy 18 fetuses (57.1%), and their association with facial clefts significantly increased risk (OR=11.08).

Conclusions:

The presence of two or more structural defects increases the probability of a chromosomal disorder, notably with associated omphalocele.
Cardiac defects demonstrated the strongest association with all chromosomal abnormalities.
A significant link was observed between heart defects, facial clefts, and Trisomy 13.