✦ LIBER ✦

Irregular phenotypic expression of ring chromosomes

✍ Scribed by Rosina Zdansky; Milly Andrle; Erika Bühler; T. Tsuchimoto; W. R. Mayr; A. Rett

Book ID: 104702465
Publisher: Springer
Year: 1975
Tongue: English
Weight: 655 KB
Volume: 26
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00281453

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Ring chromosome 6: Variability in phenot

Ring chromosome 6: Variability in phenotypic expression

✍ Peeden, J. N. ;Scarbrough, P. ;Taysi, K. ;Wilroy, R. S. ;Finley, S. ;Luthardt, F 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 593 KB

Molecular and phenotypic characterizatio

Molecular and phenotypic characterization of ring chromosome 22

✍ Aaron R Jeffries; Sarah Curran; Frances Elmslie; Ajay Sharma; Sharon Wenger; Mar 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 210 KB 👁 2 views

Severe phenotypes associated with inacti

Severe phenotypes associated with inactive ring X chromosomes

✍ Migeon, Barbara R. ;Ausems, Margareet ;Giltay, Jacques ;Hasley-Royster, Camille 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 346 KB 👁 2 views

Mosaicism and phenotype in ring chromoso

Mosaicism and phenotype in ring chromosome 20 syndrome

✍ T. Nishiwaki; M. Hirano; M. Kumazawa; S. Ueno 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB

Ring-11 chromosome: Phenotype-karyotype

Ring-11 chromosome: Phenotype-karyotype correlation with deletions of 11q

✍ Cousineau, Anthony J. ;Higgins, James V. ;Scott-Emuakpor, Ajovi B. ;Mody, Gita ; 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 430 KB 👁 2 views

Ring chromosome 15 in child with a minor

Ring chromosome 15 in child with a minor dysmorphism of phenotype

✍ Lj. Rumenić; I. Joksimović; M. Anaf 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 289 KB

The analysis of a karyotype of a girl with slight mental retardation, without significant dysmorphism, showed the presence of a ring chromosome in group 13-15. By the application of G technique it was discovered that in this case it was an aberrant chromosome 15. Besides retardation in growth and a