Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism

Journal of Medical Genetics

Volumn 48, Issue 3, 2011, Pages 212-216

  Romanelli, Valeria ^a,b   Nevado, Julián ^a,b   Fraga, Mario ^c   Trujillo, Alex Martín ^d   Mori, Maria Ángeles ^a,b   Fernández, Luis ^a,b   De Nanclares, Guiomar Pérez ^b,e   Martínez Glez, Víctor ^a,b   Pita, Guillermo ^f   Meneses, Heloisa ^a,b,g   Gracia, Ricardo ^a   García Miñaur, Sixto ^a,b   De Miguel, Purificación García ^a   Lecumberri, Beatriz ^a   Rodríguez, José Ignacio ^a   Neira, Anna González ^f   Monk, David ^d   Lapunzina, Pablo ^a,b,h  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d HOSPITAL DURAN I REYNALS   (Spain)

^e HOSPITAL TXAGORRITXU   (Spain)

^f Structural Biology and Biocomputing Programme   (Spain)

^g FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^h RESSC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DIAZOXIDE; VALPROIC ACID;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CANCER SUSCEPTIBILITY; CASE REPORT; CLINICAL FEATURE; CONVULSION; DIPLOIDY; FEMALE; GENOME; HETEROZYGOSITY LOSS; HUMAN; HYPOGLYCEMIA; MOSAICISM; NEPHROBLASTOMA; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SOMATIC CELL; SYMPTOM; UNIPARENTAL DISOMY;

ADULT; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; DIPLOIDY; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; NEOPLASMS; PHENOTYPE; UNIPARENTAL DISOMY;

EID: 79951800151     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.081919     Document Type: Article

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