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Asymmetrical, reciprocal translocation (45,XX,tdic(9;17) (p21;p12)
Journal of Mental Deficiency Research
|September 1, 1975
Summary
A rare case of chromosomal mosaicism in a nine-month-old girl revealed a 9/17 translocation chromosome. This genetic anomaly was identified using advanced G-band and C-band techniques, impacting cell development.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosomal abnormalities can lead to complex congenital conditions.
- Mosaicism, where an individual has cell populations with different karyotypes, presents diagnostic challenges.
- Congenital heart disease and dysmorphic features often indicate underlying genetic factors.
Observation:
- A nine-month-old female presented with dysmorphic features and congenital heart disease.
- Analysis revealed chromosomal mosaicism, with approximately 50% of cells exhibiting a normal 46,XX karyotype.
- The remaining cells contained a dicentric translocation chromosome, identified as a 9/17 translocation.
Findings:
- G-banding technique precisely identified the dicentric chromosome as a 9/17 translocation.
- C-banding confirmed dual centromere staining on the translocation chromosome.
- Giemsa 11 staining further delineated the centromeric region of chromosome 9 involved in the translocation.
Implications:
- This case highlights the importance of detailed cytogenetic analysis in diagnosing complex pediatric conditions.
- Understanding such translocations is crucial for genetic counseling and predicting developmental outcomes.
- The study contributes to the understanding of rare chromosomal aberrations and their phenotypic manifestations.