caa a22 4500 467985812 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194228 doi (NATIONALLICENCE)springer-10.1007/BF00194228 Investigation of three patients with the "ring syndrome”, including familial transmission of ring 5, and estimation of reproductive risks [Elektronische Daten] [K. MacDermot, E. Jack, A. Cooke, C. Turleau, R. Lindenbaum, J. Pearson, C. Patel, P. Barnes, J. Portch, M. Crawfurd] Summary: We report three cases of ring chromosome 5 [r(5)], two familial (mother and daughter) and one sporadic. The phenotype resembled that of the "ring syndrome” with prenatal onset of short stature, growth retardation, mild facial dysmorphism and normal psychomotor development. Extended metaphase and prometaphase chromosome preparations using G-, R- and Q-banding and scanning electron microscopy (SEM) failed to demonstrate deletion in the ring 5. Flow karyotype using the FACS cell sorter and peak area analysis showed the r(5) to be in the same position as the normal chromosome 5. The deletion that is presumably associated with ring formation appears to involve less that one megabase of DNA. In the "complex” rings, high resolution SEM showed fragile sites at the 5q34 and 5q35 region with frequent deletions at that site. A literature survey suggests that when a parent carries a ring chromosome about 80% of recognised pregnancies result in live birth. Of these, about half have a normal phenotype and karyotype, and half inherit the parental ring; about half of those acquiring the ring (20%) show significant mental retardation. Springer-Verlag, 1990 MacDermot K. Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex, UK aut Jack E. Patterson Institute for Cancer Research, Christie Hospital, Wimslow Raod, M20 9BX, Manchester, UK aut Cooke A. Duncan Guthrie Institute, G38 XJ, Yorkhill, Glasgow, UK aut Turleau C. Hôpital Necker-Enfants-Malades, 149, Rue de Sévres, F-75743, Paris, France aut Lindenbaum R. Churchill Hospital, OX3 7LJ, Headington, Oxford, UK aut Pearson J. Churchill Hospital, OX3 7LJ, Headington, Oxford, UK aut Patel C. Churchill Hospital, OX3 7LJ, Headington, Oxford, UK aut Barnes P. Bedford General Hospital, Kempston Road, Bedford, UK aut Portch J. Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex, UK aut Crawfurd M. Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex, UK aut Human Genetics Springer-Verlag 85/5(1990-10-01), 516-520 0340-6717 85:5<516 1990 85 439 https://doi.org/10.1007/BF00194228 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194228 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- MacDermot K. Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex, UK aut NATIONALLICENCE 700 1- Jack E. Patterson Institute for Cancer Research, Christie Hospital, Wimslow Raod, M20 9BX, Manchester, UK aut NATIONALLICENCE 700 1- Cooke A. Duncan Guthrie Institute, G38 XJ, Yorkhill, Glasgow, UK aut NATIONALLICENCE 700 1- Turleau C. Hôpital Necker-Enfants-Malades, 149, Rue de Sévres, F-75743, Paris, France aut NATIONALLICENCE 700 1- Lindenbaum R. Churchill Hospital, OX3 7LJ, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Pearson J. Churchill Hospital, OX3 7LJ, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Patel C. Churchill Hospital, OX3 7LJ, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Barnes P. Bedford General Hospital, Kempston Road, Bedford, UK aut NATIONALLICENCE 700 1- Portch J. Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex, UK aut NATIONALLICENCE 700 1- Crawfurd M. Kennedy Galton Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 516-520 0340-6717 85:5<516 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer