A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

Human Genetics

Volumn 120, Issue 1, 2006, Pages 77-84

  Kriek, Marjolein ^a   Szuhai, Karoly ^a   Kant, Sarina G ^a   White, Stefan J ^a   Dauwerse, Hans ^a   Fiegler, Heike ^b   Carter, Nigel P ^b   Knijnenburg, Jeroen ^a   den Dunnen, Johan T ^a   Tanke, Hans J ^a   Breuning, Martijn H ^a   Rosenberg, Carla ^a,c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELIC IMBALANCE; ARTICLE; CASE REPORT; CAT EYE SYNDROME; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME BAND; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIGEORGE SYNDROME; GENE DELETION; GENETIC DISORDER; GENETIC RECOMBINATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; SEQUENCE HOMOLOGY; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 22; COLOBOMA; CRANIOFACIAL ABNORMALITIES; FAMILY HEALTH; FEMALE; GENE REARRANGEMENT; GENOME, HUMAN; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROARRAY ANALYSIS; MIDDLE AGED; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; SYNDROME;

EID: 33745686136     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0185-2     Document Type: Article

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