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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
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.
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.
- 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.