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Related Experiment Videos

A specific phenotype associated with trisomy 15 mosaicism

J P Fryns1, A Kleczkowska, L Lagae

  • 1Center for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

Annales De Genetique
|January 1, 1993
PubMed
Summary

This report details a female newborn with trisomy 15 mosaicism and double aneuploidy. The patient exhibits a unique phenotype including craniofacial abnormalities and severe hypotonia.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Trisomy 15 mosaicism is a rare chromosomal abnormality.
  • Double aneuploidy, involving multiple chromosomal abnormalities, further complicates genetic diagnoses.
  • Understanding the phenotypic spectrum of rare aneuploidies is crucial for diagnosis and management.

Observation:

  • A female newborn presented with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX).
  • The patient displayed characteristic craniofacial dysmorphism.
  • Severe hypotonia and generalized symptoms were noted, suggesting a fetal akinesia sequence.

Findings:

  • The observed phenotype is distinct compared to previously reported cases of trisomy 15 mosaicism.
  • The combination of trisomy 15 mosaicism and XXX aneuploidy results in a unique clinical presentation.

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  • Symptoms align with a fetal akinesia sequence, indicating potential early developmental disruptions.

    • Implications:

    • This case expands the known phenotypic spectrum of trisomy 15 mosaicism.
    • Highlights the importance of genetic testing in newborns with unexplained dysmorphism and hypotonia.
    • Further research is needed to understand the genotype-phenotype correlations in complex aneuploidies.