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Trisomy 7p: report of 2 patients and literature review
Y H Arens1, A Toutain, J J Engelen
1Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
Genetic Counseling (Geneva, Switzerland)
|January 5, 2001
Insights
Two patients with trisomy 7p experienced severe developmental delays and congenital anomalies. This genetic condition, trisomy 7p, can arise spontaneously or be inherited, impacting development.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Trisomy 7p, a rare chromosomal abnormality, involves an extra copy of the short arm of chromosome 7.
- This condition is associated with distinct facial features and congenital anomalies, but its genetic origins and developmental impact require further elucidation.
Observation:
- The study reports on two pediatric patients diagnosed with trisomy 7p.
- Both patients presented with characteristic facial dysmorphism and multiple congenital anomalies.
- Detailed clinical assessments were performed to document the phenotypic manifestations.
Findings:
- One case involved a de novo trisomy 7p, indicating a spontaneous genetic mutation.
- The second case resulted from unbalanced inheritance of a parental translocation, highlighting familial genetic risks.
- Severe developmental delay was a consistent and significant outcome in both patients.
Implications:
- These cases contribute to understanding the variable etiology of trisomy 7p, including de novo events and inherited translocations.
- The findings underscore the critical impact of trisomy 7p on neurodevelopmental outcomes.
- Further research and genetic counseling are important for families affected by this condition.
Abstract:
Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.