Chromosome 5 derived small supernumerary marker: Towards a genotype/phenotype correlation of proximal chromosome 5 imbalances

Journal of Applied Genetics

Volumn 52, Issue 2, 2011, Pages 193-200

  Melo, Joana Barbosa ^a   Backx, Liesbeth ^b   Vermeesch, Joris R ^b   Santos, Heloisa G ^c   Sousa, Ana C ^c   Kosyakova, Nadezda ^d   Weise, Anja ^d   von Eggeling, Ferdinand ^d   Liehr, Thomas ^d   Carreira, Isabel Marques ^a  

^a UNIVERSITY OF COIMBRA   (Portugal)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c HOSPITAL DE SANTA MARIA   (Portugal)

^d JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

Array CGH; Array painting; FISH; Microdissection; Ring chromosome 5; Trisomy 5q

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME 5; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; GENETICS; HUMAN; LANGUAGE DISABILITY; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; REVIEW; TRISOMY;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGUAGE DEVELOPMENT DISORDERS; MENTAL RETARDATION; TRISOMY;

EID: 79955822180     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-011-0035-3     Document Type: Review

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