Prenatal diagnosis of minute 5p- deletion: a cytogenetic problem in detection.
An unbalanced translocation, 46,XX,der(5)t(5;11) (p15;q25)mat was ascertained by prenatal diagnosis. The mother previously had a liveborn child with cri du chat syndrome. The subtlety of the chromosome rearrangement in this case illustrates the need for the most detailed cytogenetic investigations in cri du chat cases when deletion or translocation are not immediately obvious.
D000328:Adult; D002871:Chromosome Banding / Q000379:methods; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014178:Translocation, Genetic