Article
Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH.
Morphologie : bulletin de l'Association des anatomistes - 1 Aug 2010
Bourthoumieu S, Esclaire F, Terro F, Brosset P, Fiorenza M, Aubard V, Beguet M, Yardin C
Abstract excerpt
We report here on a familial case of centromeric heteromorphism of chromosome 18 detected by prenatal interphase fluorescence in situ hybridization (FISH) analysis transmitted by the mother to her fetus, and resulting in complete loss of one 18 signal. The prenatal diagnosis was performed by interphase FISH (AneuVysion probe set, and LSI DiGeorge 22q11.2 kit) because of the presence of an isolated fetal cardiac...
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