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[Mosaic 14 trisomy in a female child with multiple abnormalities]
Annales De Genetique
|March 1, 1975
Summary
A rare genetic condition, trisomy 14, was identified in a newborn girl with multiple birth defects. This finding highlights the importance of chromosomal analysis in diagnosing congenital anomalies.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Cytogenetics
Background:
- Congenital malformations can arise from chromosomal abnormalities.
- Accurate diagnosis is crucial for understanding prognosis and genetic counseling.
- Advanced cytogenetic techniques are essential for identifying subtle chromosomal changes.
Observation:
- A newborn female presented with multiple congenital malformations.
- Chromosomal analysis was performed using lymphocyte and fibroblast cultures.
- A minor clone with trisomy 14 (47,XX,+14) was detected.
Findings:
- The presence of a trisomy 14 mosaicism was confirmed as a potential cause for the observed malformations.
- This specific chromosomal rearrangement, 47,XX,+14, is a rare finding.
- The study discusses various rearrangements involving chromosome 14.
Implications:
- This case underscores the significance of chromosomal studies in neonates with unexplained congenital anomalies.
- Understanding trisomy 14 and its variants can improve diagnostic accuracy.
- Further research into the phenotypic spectrum of chromosome 14 rearrangements is warranted.