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7q deletion syndrome (7q32 leads to 7qter)
Clinical Genetics
|October 1, 1977
Insights
A specific deletion on chromosome 7 causes unusual facial features and developmental delays in children. This genetic finding was consistent across five reported cases, highlighting a distinct syndrome.
Area of Science:
- Human Genetics
- Clinical Dysmorphology
- Cytogenetics
Background:
- Genetic abnormalities are a significant cause of developmental disorders.
- Chromosome 7 deletions can lead to a range of congenital anomalies.
Abstract:
Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.