A., Martinetti, J.: ‘Cri du chat’ syndrome with maternal insertional translocation. C.: Partial deletion of short arm of a chromosome of the 4–5 group (Denver) in an adult male. Humangenetik 9, 75–85 (1970)īender, K., Schindera, F., Kissmeyer-Nielsen, F.: Localization exclusion of the HL-A genes from the short arm of human chromosome 5. 89, 158–160 (1976)īender, K., Burckhardt, K.: On the localization of genes on certain autosomes of man through chromosome aberrations. 6, 180–182 (1977)īeaney, A.: Case study: A premature baby with cri-du-chat syndrome. 74, 431–433 (1977)īarjaktarović, N., Pendić, B., Garzičić, B., Popovic, M., Paljm, A.: Découverte prénatale d'un syndrome du ‘cri du chat’ conséquence d'une translocation balancée chez un des parents. Clinical and cytogenetic findings in two older patients. Lancet 1968 I, 538īach, Ch., Gautier, M., Schaefer, P., Moszer, M.: La maladie du cri du chat une observation anatomo-clinique. W., Schroeder, H.-J: Defizienz der kurzen Arme der Chromosomen der B-Gruppe (4p- 5p-). A.: Partial deletion of the short arm of chromosome 5. G.: Cat cry syndrome in a 4 months old girl. L.: Cri du chat syndrome and translocation t(5p- 18p+). A., Perez, A., Aller, V., DelMazo, J., Goday, C., Martin, M. Treatment and prevention are briefly discussed.Ībrisqueta, J. No marker locus has yet been assigned to the short arm of chromosome 5. No obvious correlation could be detected between clinical features and the localization of the deletion. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band.Ĭlinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. There was a significant excess of females.
No striking association with prenatal events, parental ages, or birth order could be demonstrated. The incidence and the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. Data for 331 cri du chat cases, including 34 Danish probands, are reviewed.
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