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- W2289071715 abstract "Two patients withtrisomy8 syndrome owingtoanisodicentric 8p;8pchromosomearedescribed. Case1hada46,XX/ 46,XX, -8,+idic(8)(p23) karyotype while case2,a male,hadthesameabnormal karyotype withoutevidence ofmosaicism.Insituhybridisation, performed in case1,showedthattheisochromosome wasasymmetrical. Agenesis ofthecorpuscallosum (ACC),whichisafeature of trisomy 8syndrome, wasfoundinboth patients. AlthoughACC isassociated withaneuploidies fordifferent chromosomes,a reviewofpublished reports indicates that,when associated with chromosome8,thisdefect istheresult of duplication of a genelocatedwithin 8p21-pter. Molecular analysis inoneof ourpatients ledustoexcludje thedistal 23Mb of8pfromthisACC region." @default.
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- W2289071715 date "1994-01-01" @default.
- W2289071715 modified "2023-09-27" @default.
- W2289071715 title "Trisomy 8syndrome owingtoisodicentric 8pchromosomes: regional assignment ofa presumptive geneinvolved incorpus callosum development" @default.
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