A centric fission of chromosome 9 was found in a boy with trisomy 9p resulting from a de novo del (9p) and a 9p isochromosome. The patient presented with clinical findings similar to those described in previously reported cases of trisomy 9p. The cytogenetic evaluation and the molecular analysis usi
Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p
β Scribed by Bruno Dallapiccola; Pierpaolo Mastroiacovo; Enrico Gandini
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 323 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Centric fission of chromosome No. 4 was found in the healthy mother of two children with trisomy 4p. The two telocentrics derived are stable and show no evidence of fusing again. The 2:3 ratio of unbalanced offsprings born to the proposita indicates that, contrary to the evidence emerging from studies in other species, the risk for the production of unbalanced gametes is high.
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A series of fibroblasts from patients with numerical or structural aberrations of the X chromosome were scored for the amount of mRNA of ribosomal protein S4 (RPS4X). Haplo-insufficiency of this gene has been reported previously to be a possible cause of Turner syndrome. Our results show that the tr
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