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A prenatal counseling conundrum: mosaic trisomy 16. A case study presenting cognitive functioning and adaptive
R J Simensen1, R S Colby, K J Corning
1Greenwood Genetic Center, Columbia, SC 29209, USA. simensen@ggc.org
Genetic Counseling (Geneva, Switzerland)
|October 28, 2003
Summary
Mosaic trisomy 16 prenatal diagnosis in a six-year-old showed normal development. This case highlights the variability in outcomes for mosaic trisomy 16, impacting genetic counseling.
Area of Science:
- Genetics
- Developmental Pediatrics
- Clinical Genetics
Background:
- Prenatal diagnosis of chromosomal abnormalities like mosaic trisomy 16 presents significant management challenges.
- Mosaic trisomy 16 is a condition where cells have an extra copy of chromosome 16 in some, but not all, cells.
Observation:
- A patient diagnosed prenatally with mosaic trisomy 16 was assessed at six years of age.
- Developmental assessment included intellectual functioning, academic achievement, and adaptive behavior.
Findings:
- The patient exhibited normal intellectual functioning at six years old.
- Academic achievement and adaptive behavior were also within the normal range for the patient.
- This contrasts with a wide spectrum of outcomes reported in other cases of mosaic trisomy 16.
Implications:
- The findings underscore the variable expressivity and potential for normal development in mosaic trisomy 16.
- This variability poses a diagnostic dilemma for healthcare providers and genetic counselors.
- Further research is needed to better predict outcomes for mosaic trisomy 16.