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Summary
A rare 46, XY/46, XY chromosome 18 p-mosaic was identified in a child presenting with multiple congenital anomalies. This genetic condition manifested as craniofacial dysmorphia, developmental delays, and neurological issues.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Mosaicism, specifically chromosomal mosaicism, involves the presence of two or more cell lines with different karyotypes within an individual.
- Chromosome 18p deletion syndrome is a condition associated with a partial deletion of the short arm of chromosome 18, leading to a range of developmental abnormalities.