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Related Concept Videos

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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...

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Related Experiment Video

Updated: Jun 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Poland syndrome: rare presentation in two cases.

Hayrettin Gocmen, Yucel Akkas, Selim Doganay

    The New Zealand Medical Journal
    |October 8, 2010
    PubMed
    Summary

    Poland syndrome, a rare congenital condition, presents with chest wall and upper limb abnormalities. This report details two adult cases highlighting diverse clinical manifestations including hypomastia and respiratory issues.

    Area of Science:

    • Medical Genetics
    • Congenital Disorders
    • Thoracic Surgery

    Background:

    • Poland syndrome is a rare congenital condition characterized by hypoplasia of the pectoralis major muscle and syndactyly.
    • First described in 1840, its incidence is estimated at 1 in 30,000 live births.

    Observation:

    • This case report presents two adult patients diagnosed with Poland syndrome.
    • Both patients exhibited ipsilateral hypomastia and reduced axillary/pectoral hair.
    • One patient presented with widespread cafe au lait spots, while the other experienced respiratory dysfunction due to rib anomalies.

    Findings:

    • The findings underscore the variability in Poland syndrome presentation, extending beyond typical limb and chest abnormalities.
    • Adult diagnosis highlights the potential for subtle or overlooked symptoms in early life.

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    Published on: February 3, 2012

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    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
    08:22

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    12:47

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    Implications:

    • These cases emphasize the importance of recognizing diverse Poland syndrome phenotypes in adulthood.
    • Further research into the genetic and developmental factors contributing to Poland syndrome's varied manifestations is warranted.
    • Improved diagnostic awareness can lead to timely management of associated complications, such as respiratory dysfunction.