Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and...
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
About this item
Full title
Author / Creator
Rossi, Elena , Piccini, Flavia , Zollino, Marcella , Neri, Giovanni , Caselli, Desirée , Tenconi, Romano , Castellan, Claudio , Carrozzo, Romeo , Danesino, Cesare , Zuffardi, Orsetta , Ragusa, Angela , Castiglia, Lucia , Galesi, Ornella , Greco, Donatella , Romano, Corrado , Pierluigi, Mauro , Perfumo, Chiara , Di Rocco, Maia , Faravelli, Francesca , Bricarelli, Franca Dagna , Bonaglia, MariaClara , Bedeschi, MariaFrancesca and Borgatti, Renato
Publisher
London: BMJ
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ
Subjects
More information
Scope and Contents
Contents
[...]in our patients, subtelomeric rearrangements were always associated not only with moderate or severe mental retardation but also with dysmorphic features and congenital anomalies. [...]our conclusion is that once a well defined aetiological cause has been excluded, screening with subtelomeric probes should be applied in subjects with a "chromo...
Alternative Titles
Full title
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Authors, Artists and Contributors
Author / Creator
Piccini, Flavia
Zollino, Marcella
Neri, Giovanni
Caselli, Desirée
Tenconi, Romano
Castellan, Claudio
Carrozzo, Romeo
Danesino, Cesare
Zuffardi, Orsetta
Ragusa, Angela
Castiglia, Lucia
Galesi, Ornella
Greco, Donatella
Romano, Corrado
Pierluigi, Mauro
Perfumo, Chiara
Di Rocco, Maia
Faravelli, Francesca
Bricarelli, Franca Dagna
Bonaglia, MariaClara
Bedeschi, MariaFrancesca
Borgatti, Renato
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734891
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734891
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.38.6.417
