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Related Concept Videos

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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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Updated: Mar 28, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Triploidy: Variation of Phenotype.

M Hassan Toufaily1, Drucilla J Roberts2, Marie-Noel Westgate3

  • 1From the Medical Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School, Boston, MA Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA htoufaily@mgh.harvard.edu.

American Journal of Clinical Pathology
|December 30, 2015
PubMed
Summary
This summary is machine-generated.

Triploidy, a rare condition affecting 1% of conceptions, often results in early miscarriage. However, syndactyly (fused fingers) and placental abnormalities can be distinctive features in surviving fetuses.

Keywords:
Congenital malformationsNon-molar placentaPartial hydatidiform molePhenotypeSyndactylyTriploidy

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Area of Science:

  • Genetics and Developmental Biology
  • Reproductive Medicine
  • Fetal Medicine

Background:

  • Triploidy (69, XXX; 69, XXY; 69, XYY) is a chromosomal abnormality occurring in approximately 1% of human conceptions.
  • Affected fetuses typically do not survive past the first trimester, making fetal development in triploidy a rare occurrence.
  • Understanding the fetal and placental phenotypes is crucial for diagnosis and management.

Purpose of the Study:

  • To describe the fetal and placental phenotypes in a series of triploid fetuses.
  • To compare observed phenotypes with findings from previous publications.
  • To identify potential diagnostic features for triploidy during pregnancy.

Main Methods:

  • Analysis of 54 triploid fetuses identified between 1972 and 2012 through the Active Malformations Surveillance Program.
  • Phenotypic description based on prenatal imaging (ultrasound) and detailed autopsy findings.
  • Chromosome analysis confirmed the diagnosis in 53 of the 54 cases.

Main Results:

  • Fifty percent (27/54) of triploid fetuses were identified prenatally.
  • Common prenatal ultrasound findings included renal malformations, heart defects, hydrocephalus, holoprosencephaly, and myelomeningocele.
  • Autopsy revealed syndactyly (fused fingers 3-4) in 69% (37/54) of fetuses, and partial hydatidiform mole features in the placenta in 24% (13/54).

Conclusions:

  • Major malformations and growth restriction during pregnancy can suggest triploidy.
  • While no single feature is pathognomonic, syndactyly (especially 3-4 syndactyly) is a distinctive feature.
  • Placental abnormalities, including cystic changes, may be visible on ultrasound; no significant phenotypic differences were noted between molar and non-molar placentas.