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Trisomy 7p: association with several craniocerebral anomalies and spongy degeneration
F Bartoloni Saint Omer1, A Calzolari, A Cecconi
1Dipartimento di pediatria dell'Università di Firenze.
Insights
Partial trisomy 7p, a rare genetic condition, was observed in a female infant with congenital anomalies. Autopsy revealed spongy degeneration in the brain, highlighting potential neurological impacts.
Area of Science:
- Human Genetics
- Developmental Biology
- Pathology
Background:
- Partial trisomy 7p is a chromosomal abnormality associated with specific anatomical and pathological findings.
- Congenital anomalies can arise from various genetic and environmental factors during development.
Observation:
- A case report of a newborn female with multiple congenital anomalies is presented.
- The patient's karyotype revealed a partial trisomy 7p due to a translocation: 46,XX,-14, + der (7;14) (7pter----7p11::14p11----14qter).
- The infant experienced cardiac failure and died at 10 months of age.
Findings:
- Autopsy examination included microscopic study of the brain.
- Spongy degeneration of the brain tissue was identified.
- This finding suggests a potential link between the specific chromosomal abnormality and neurodegenerative changes.
Implications:
- This case contributes to understanding the phenotypic spectrum of partial trisomy 7p.
- The observed brain pathology highlights the critical role of chromosome 7p in neurological development.
- Further research may elucidate the mechanisms underlying neurodegeneration in this condition.
Abstract:
Partial trisomy 7p has been observed associated with particular anatomo-pathological findings. A newborn female with several congenital anomalies, whose chromosome constitution was: 46,XX,-14, + der (7;14) (7pter----7p11::14p11----14qter), is reported. The patient died at the age of 10 months, because of cardiac failure and autopsy was performed: the microscopic study showed spongy degeneration in the brain.