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Ring 2 chromosome: ten-year follow-up report.
Y Lacassie1, M I Arriaza, A Vargas
1Department of Pediatrics, Louisiana State University Medical Center, New Orleans 70112-2822, USA. ylacassie@mail.peds.lsumc.edu
American Journal of Medical Genetics
|July 16, 1999
Summary
Ring chromosomes, regardless of the specific chromosome, may cause a "general ring syndrome" with growth failure and intellectual deficits. A patient with ring 2 chromosome and growth retardation supports this hypothesis.
Area of Science:
- Genetics
- Clinical Medicine
Background:
- Ring chromosomes are rare chromosomal abnormalities.
- Previous research suggested a common phenotypic pattern for ring chromosomes without deletions, termed 'general ring syndrome'.
Observation:
- A patient presented with features of Silver-Russell syndrome at birth.
- The patient exhibited significant postnatal growth retardation.
- Minor intellectual impairment was noted.
Findings:
- The patient had a ring 2 chromosome.
- The observed phenotype, including growth failure and mild intellectual involvement, supports the 'general ring syndrome' hypothesis.
- This is the ninth reported case of a ring 2 chromosome and the longest-surviving patient with a 10-year follow-up.
Implications:
- This case reinforces the concept of a 'general ring syndrome' independent of the specific chromosome involved.
- Further research into ring chromosome phenotypes is warranted.
- Understanding these syndromes can aid in diagnosis and management of affected individuals.