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Two cases of ring chromosome 11
Journal of Medical Genetics
|October 1, 1983
Insights
Ring chromosome 11 is associated with developmental issues like mental retardation, microcephaly, and short stature. One reported case also developed Wilms' tumor, highlighting potential cancer risks.
Area of Science:
- Human Genetics
- Clinical Cytogenetics
- Pediatric Oncology
Background:
- Ring chromosome 11 is a rare chromosomal abnormality.
- It is associated with a spectrum of congenital anomalies and developmental disorders.
Observation:
- Two cases of ring chromosome 11 (r(11)) are presented.
- Both individuals exhibited mental retardation, microcephaly, and short stature.
- One case developed a Wilms' tumor and had a fatal outcome.
Findings:
- High-resolution G-banding in case 1 revealed no visible chromatin loss (46,XX,r(11)(p15 X 4q2 X 5)).
- Q-banding in case 2 showed minimal chromosome deletion (46,XY,r(11)(p15q25)).
- These findings suggest that ring chromosome 11 can occur with or without apparent deletions.
Implications:
- Ring chromosome 11 is linked to significant developmental delays and physical abnormalities.
- The association with Wilms' tumor in one case warrants further investigation into potential oncogenic mechanisms.
- Accurate cytogenetic analysis is crucial for diagnosing and understanding the prognosis of ring chromosome 11.
Abstract:
Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).