titoli, abstracts, parole chiave >>>
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability

Pezzolo, Annalisa and Gimelli, Giorgio and Cohen, Amnon and Lavagetto, Antonella and Romano, Cesare and Fogu, Giuseppa and Zuffardi, Orsetta (1993) Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Human Genetics, Vol. 92 (1), p. 23-27. eISSN 1432-1203. Article.

Full text not available from this repository.

DOI: 10.1007/BF00216140

Abstract

In situ hybridization of a telomeric (TTA-GGG)n sequence to metaphases from three cases of ring chromosome, involving respectively chromosomes 4, 16, and 20, showed the presence of the cognate sequences in all three rings. To investigate whether these ring chromosomes originated by telomere-telomere fusion, we determined, by in situ hybridization, whether telomere-associated sequences and/or specific distal sequences were still present in the ring chromosomes. The finding that these sequences were preserved in all the ring chromosomes strongly indicates that they originated by telomere-telomere fusion. All three subjects carrying the ring chromosomes are affected by the so-called ring syndrome, with failure to thrive, minor dysmorphic signs and no major anomalies. The r(4) patient has the ring in mosaic form with a normal cell line and has normal intelligence. The r(16) and the r(20) patients have moderate mental retardation and suffer from seizures. We conclude that the ring syndrome, even in its more severe manifestation, is caused by ring chromosome instability.

Item Type:Article
ID Code:5389
Status:Published
Refereed:Yes
Uncontrolled Keywords:Telomere-telomere fusion, ring syndrome, ring chromosome instability
Subjects:Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
Publisher:Springer Berlin / Heidelberg
eISSN:1432-1203
Deposited On:31 Jan 2011 09:59

I documenti depositati in UnissResearch sono protetti dalle leggi che regolano il diritto d'autore

Repository Staff Only: item control page