Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin.
A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation chromosome. However, no silver precipitation after AgNO3-staining was observed on the translocation chromosome, thus indicating a loss or genetic inactivation of the NOR-region of the translocated No. 15. These cytogenetic results and their possible relationship to the cri-du-chat phenotype are discussed.
D002503:Centromere / Q000648:ultrastructure*; D002871:Chromosome Banding; D002875:Chromosomes / Q000648:ultrastructure*; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006570:Heterochromatin / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D013194:Staining and Labeling; D014178:Translocation, Genetic
D006570:Heterochromatin