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Ring chromosome 15: follow-up data on physical and psychological development
J P Fryns1, M Borghgraef, A Kleczkowska
1Center for Human Genetics, University of Leuven, Belgium.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1990
Summary
Ring chromosome 15 (r(15)) in girls is linked to significant growth and intellectual challenges. However, long-term follow-up shows potential for satisfactory social integration and functioning despite these issues.
Area of Science:
- Genetics
- Pediatrics
- Clinical Psychology
Background:
- Ring chromosome 15 (r(15)) is a rare chromosomal abnormality.
- Children with r(15) often present with growth retardation and developmental delays.
Purpose of the Study:
- To summarize clinical and psychological follow-up data for girls with r(15).
- To assess long-term outcomes, including social integration and functioning.
Main Methods:
- Longitudinal case series.
- Clinical assessment of growth and dysmorphism.
- Psychological evaluations focusing on IQ, attention, concentration, and verbal abilities.
Main Results:
- Three girls with r(15) exhibited symmetrical growth retardation and mild-to-borderline intellectual disability.
- Performantial IQ surpassed attention/concentration skills.
- Severe early-onset verbal disability resolved significantly by age 6.
Conclusions:
- Ring chromosome 15 is associated with distinct growth and cognitive profiles.
- Despite severe growth failure, social integration and functioning can be satisfactory in r(15) patients.
- Early verbal deficits may improve over time, highlighting the importance of long-term monitoring.