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Cri du chat-syndrome in combination with partial trisomy 9 p
Padiatrie Und Padologie
|January 1, 1986
Summary
A boy presented with Cri du chat syndrome and partial trisomy 9p due to a rare chromosomal translocation. This genetic anomaly was inherited from his father, a balanced translocation carrier, revealing a familial inheritance pattern.
Area of Science:
- Human Genetics
- Clinical Cytogenetics
- Pediatric Neurology
Background:
- Cri du chat syndrome is caused by a deletion on the short arm of chromosome 5 (5p).
- Partial trisomy 9p is a rare chromosomal abnormality associated with distinct clinical features.
- Combined chromosomal aberrations can lead to complex phenotypes.