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Trisomy 14 mosaicism in a 5-year-old boy
P Vachvanichsanong1, U Jinorose, P Sangnuachua
1Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Thailand.
American Journal of Medical Genetics
|July 1, 1991
Summary
This study details a rare case of trisomy 14 mosaicism in a young boy presenting with multiple congenital anomalies. The findings contribute to understanding this genetic condition and its phenotypic variations.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Mosaicism, a condition where an individual has cell lines with different genetic makeup, can lead to complex phenotypes.
- Trisomy 14 mosaicism is a rare chromosomal abnormality associated with significant developmental challenges.
- Incontinentia pigmenti is a related genodermatosis with overlapping features, warranting comparative analysis.
Observation:
- A 5-year-old boy presented with failure to thrive, intellectual disability, and multiple congenital anomalies.
- These anomalies included facial dysmorphisms, cardiac defects (tetralogy of Fallot), skeletal abnormalities, skin hyperpigmentation, and genitourinary issues.
Findings:
- Karyotype analysis revealed mosaicism for trisomy 14 (46,XY/47,XY,+14 in a 3:1 ratio).
- The patient's phenotype shares features with Down syndrome and incontinentia pigmenti.
Implications:
- This case expands the known clinical spectrum of trisomy 14 mosaicism.
- Highlights the importance of genetic testing in complex pediatric cases with multiple congenital anomalies.