Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

Human Mutation

Volumn 28, Issue 5, 2007, Pages 459-468

  Giorda, Roberto ^a   Ciccone, Roberto ^b   Gimelli, Giorgio ^c   Pramparo, Tiziano ^b   Beri, Silvana ^a   Bonaglia, Maria Clara ^a   Giglio, Sabrina ^d   Genuardi, Maurizio ^d   Argente, Jesùs ^e   Rocchi, Mariano ^f   Zuffardi, Orsetta ^b,g  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^f UNIVERSITY OF BARI   (Italy)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Chromosome 8; Chromosome duplication; Chromosome triplication; Low copy repeats; Nonallelic homologous recombination; Recurrent rearrangement

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; LOW COPY REPEAT; LYMPHOCYTE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR CLONING; MYOM2 GENE; OLFACTORY RECEPTOR; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RECEPTOR GENE;

ADOLESCENT; BASE SEQUENCE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; DNA; FEMALE; GENE REARRANGEMENT; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MUSCLE PROTEINS; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC;

EID: 34247599683     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20465     Document Type: Article

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