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Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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.
Nondisjunction01:29

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...

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Updated: Jul 7, 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

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Published on: December 4, 2021

Trisomy 18: a case study.

Jacquelyn Shaw1

  • 1Baylor College of Medicine, Department of Pediatrics, Houston, Texas, USA. jackiekshaw@aol.com

Neonatal Network : NN
|February 1, 2008
PubMed
Summary
This summary is machine-generated.

Trisomy 18 is a severe genetic disorder causing multiple birth defects. Infants often present with distinct physical features and congenital anomalies, leading to high mortality rates.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Trisomy 18, also known as Edwards syndrome, is a chromosomal abnormality.
  • It is characterized by the presence of an extra copy of chromosome 18 in cells.
  • This genetic disorder leads to significant developmental challenges and congenital anomalies.

Observation:

  • Infants with Trisomy 18 exhibit a recognizable pattern of physical features.
  • Common observations include prominent occiput, short palpebral fissures, micrognathia, and specific hand and foot deformities.
  • Congenital heart defects and renal malformations are frequently observed.

Findings:

  • The nondisjunction type of Trisomy 18 affects all cells, resulting in widespread developmental impact.
  • Characteristic physical findings serve as crucial diagnostic clues.
  • High mortality is associated with cardiac and renal issues, feeding problems, sepsis, and central nervous system defects.

Implications:

  • Early recognition of physical indicators is vital for timely diagnosis of Trisomy 18.
  • Understanding the spectrum of anomalies aids in managing associated health complications.
  • Further research into Trisomy 18 can improve patient care and outcomes.