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Presumptive long arm deletion of chromosome 8: a new syndrome?
Human Genetics
|September 2, 1979
Insights
A deletion on chromosome 8 long arm in an infant caused severe malformations and developmental delays. This finding suggests a new genetic syndrome associated with interstitial deletion of chromosome 8 long arm (del(8)(q13q22)).
Area of Science:
- Human Genetics
- Clinical Dysmorphology
- Chromosomal Abnormalities
Background:
- Congenital malformations and developmental delays can arise from chromosomal abnormalities.
- Interstitial deletions of specific chromosome segments may lead to recognizable genetic syndromes.
Abstract:
This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.