Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: Clues to the mechanisms of formation

Journal of Medical Genetics

Volumn 45, Issue 3, 2008, Pages 147-154

  Rossi, E ^a   Riegel, M ^b   Messa, J ^a   Gimelli, S ^a   Maraschio, P ^a   Ciccone, R ^a   Stroppi, M ^c   Riva, P ^c   Perrotta, C S ^d   Mattina, T ^d   Memo, L ^e   Baumer, A ^b   Kucinskas, V ^f   Castellan, C ^g   Schinzel, A ^b   Zuffardi, O ^a,h  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY OF MILAN   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

^e OSPEDALE CA FONCELLO   (Italy)

^f VILNIUS UNIVERSITY   (Lithuania)

^g Genetische Beratungsstelle   (Italy)

^h FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; TERMINAL SEQUENCE;

BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN; DNA PRIMERS; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MALE; MICROSATELLITE REPEATS; MODELS, GENETIC; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; RING CHROMOSOMES;

EID: 40649085830     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.054007     Document Type: Article

References (43)

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