Irregular phenotypic expression of ring chromosomes
- 1 September 1975
- journal article
- research article
- Published by Springer Nature in Humangenetik
- Vol. 26 (3), 193-198
- https://doi.org/10.1007/bf00281453
Abstract
Summary 2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject the existence of clear-cut ring chromosome syndromes.Keywords
This publication has 14 references indexed in Scilit:
- Developmental Abnormalities Associated with a Ring Chromosome 6Journal of Medical Genetics, 1973
- Ring chromosome D (13) associated with multiple congenital malformations.1973
- Reexamination of a family with a t(13q14q) and a ring D(13) child.1973
- [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].1973
- Ring chromosome 7 with variable phenotypic expressionCytogenetic and Genome Research, 1973
- [Hereditary mosaicism: normal-trisomy D, chromosome fragility and new type of mosaicism with D ringformation in descendents].1972
- Staining of Some Specific Regions of Human Chromosomes, particularly the Secondary Constriction of No. 9Nature New Biology, 1972
- A group-C ring chromosome in a mentally deficient male.Journal of Medical Genetics, 1971
- Comparative behavior of ring chromosomes.1970
- IntroductionThe Journal of Pediatrics, 1967