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VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene
P M Cox1, R A Gibson, N Morgan
1Department of Histopathology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
American Journal of Medical Genetics
|January 10, 1997
Abstract:
We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia.