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Pleiotropy01:33

Pleiotropy

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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,...
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Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
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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.
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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...
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Triploidy - variability of sonographic phenotypes.

Diana Massalska1, Julia Bijok1, Alicja Ilnicka2

  • 1I Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.

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|June 3, 2017
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Summary

Nearly 40% of triploid fetuses lack apparent structural abnormalities. Careful assessment of fetal growth and placenta is crucial for diagnosis, especially for diandric triploidy, which poses maternal risks.

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Area of Science:

  • Perinatology
  • Medical Genetics
  • Fetal Medicine

Background:

  • Triploidy is a severe chromosomal abnormality with significant fetal and maternal implications.
  • Prenatal diagnosis of triploidy often relies on sonographic findings, but abnormalities can be subtle.

Purpose of the Study:

  • To analyze sonographic abnormalities in triploid pregnancies.
  • To evaluate the McFadden and Kalousek classification for prenatal sonographic assessment of triploid fetuses.

Main Methods:

  • Retrospective analysis of sonographic features in 67 triploid fetuses.
  • Evaluation between 11 and 30 weeks of gestation.
  • Single referral center data from 1997-2015.

Main Results:

  • Non-specific structural defects observed in 61.2% of fetuses.
  • Diandric phenotype (cystic placenta) in 11.9% of well-grown fetuses.
  • Digynic phenotype (asymmetric growth restriction, non-cystic placenta) in 70.2% of fetuses.
  • Mixed phenotypes in 17.9% of cases.

Conclusions:

  • Almost 40% of triploid fetuses show no apparent structural abnormalities.
  • Fetal growth and placental assessment are key for suspecting triploidy.
  • Identifying diandric triploidy is vital due to high maternal complication risk.
  • Parental origin determination via sonography is inconclusive in ~20% of cases.