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Related Concept Videos

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,...
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...
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.
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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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Poland syndrome.

Harold C Urschel1

  • 1Department of Cardiovascular & Thoracic Surgery, Baylor University Medical Center and University of Texas Southwestern Medical School, Dallas, Texas 75246, USA. drurschel@me.com

Seminars in Thoracic and Cardiovascular Surgery
|July 28, 2009
PubMed
Summary
This summary is machine-generated.

Poland syndrome involves chest wall defects and muscle absence, typically on one side. Single-stage surgical reconstruction offers improved cosmetic outcomes for patients.

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Area of Science:

  • Plastic Surgery
  • Thoracic Surgery
  • Congenital Malformations

Background:

  • Poland syndrome presents as unilateral chest wall hypoplasia, affecting muscles, subcutaneous tissue, and ribs.
  • Associated features include breast/nipple absence and potential lung hernias, with variable clinical severity.
  • The unilateral nature of Poland syndrome facilitates surgical reconstruction.

Purpose of the Study:

  • To describe the characteristics of Poland syndrome.
  • To evaluate a single-stage surgical approach for chest wall reconstruction and breast augmentation in Poland syndrome patients.

Main Methods:

  • Review of Poland syndrome presentation and clinical manifestations.
  • Description of a single-stage surgical technique involving chest wall reconstruction, augmentation mammoplasty, and latissimus dorsi myocutaneous flap transfer.

Main Results:

  • Poland syndrome exhibits significant variability in presentation but is invariably unilateral.
  • The described single-stage procedure combines chest wall repair with aesthetic breast reconstruction.
  • This approach represents an advancement over multi-stage procedures with superior cosmetic results.

Conclusions:

  • Single-stage surgical reconstruction is an effective method for managing Poland syndrome.
  • The combined approach offers improved functional and cosmetic outcomes for patients.
  • This technique enhances the quality of life for individuals with Poland syndrome.