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Related Concept Videos

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.
Nondisjunction01:21

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...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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Related Experiment Video

Updated: Jun 9, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Tissue-limited mosaicism for monosomy 13.

Mahin Golabi1, Aaron W James, William V Good

  • 1California Pacific Medical Center and San Francisco General Hospital, School of Medicine, University of California San Francisco, San Francisco, California, USA.

American Journal of Medical Genetics. Part A
|September 4, 2010
PubMed
Summary

Tissue-limited mosaicism for chromosome 13 deletion (del(13)(q11→ter)) can cause multiple congenital anomalies. Fibroblast karyotyping is crucial for diagnosis when lymphocyte karyotypes are normal.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Karyotypic discordance between tissues is rare but can impact diagnosis.
  • Mosaicism, where cells have different genetic makeup, presents diagnostic challenges.

Observation:

  • A patient presented with multiple congenital anomalies and normal lymphocyte karyotype.
  • Fibroblast karyotyping revealed mosaicism for deletion on chromosome 13 (del(13)(q11→ter)).
  • Associated anomalies included microcephaly, colobomas, cardiac defects, and limb abnormalities.

Findings:

  • A common phenotype for tissue-limited mosaicism for monosomy 13 was defined.
  • This phenotype includes prenatal growth deficiency, microcephaly, distinct facial and limb abnormalities, cardiac, renal, and genital defects.
  • Pigmentary mosaicism and segmental hypoplasia were noted in the patient.

Implications:

  • Fibroblast karyotyping is essential for diagnosing unclear cases, especially with suspected tissue-limited mosaicism.
  • This case highlights the importance of considering fibroblast analysis in patients with congenital anomalies and normal peripheral blood karyotypes.
  • Early and accurate diagnosis through advanced karyotyping can guide clinical management and genetic counseling.