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A ring 14 chromosome with deleted short arm
Human Genetics
|January 1, 1980
Insights
A rare ring chromosome 14 (r(14)) was identified in a female infant. This genetic abnormality is associated with craniofacial abnormalities, seizures, and developmental delays.
Area of Science:
- Genetics
- Clinical Genetics
- Pediatric Neurology
Background:
- Chromosomal abnormalities can lead to complex congenital disorders.
- Ring chromosome 14 (r(14)) is a rare cytogenetic abnormality.
- Understanding the phenotypic consequences of r(14) is crucial for diagnosis and management.
Abstract:
We report a 46,XX,r(14) karyotype in a female infant having craniofacial dysmorphology, a seizure disorder, and developmental retardation.