Molecular characterisation of a mosaicism with a complex chromosome rearrangement: Evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Journal of Medical Genetics

Volumn 44, Issue 4, 2007, Pages 250-256

  Chabchoub, Elyes ^b   Rodríguez, Laura ^c   Galán, Enrique ^d   Mansilla, Elena ^c   Martínez Fernandez, Maria Luisa ^c   Martínez Frías, Maria Luisa ^c   Fryns, Jean Pierre ^b   Vermeesch, Joris Robert ^a,b  

^a Center for Human Genetics   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c MINISTERIO DE SANIDAD Y CONSUMO   (Spain)

^d HOSPITAL INFANTA CRISTINA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BIOINFORMATICS; CASE REPORT; CELL LINE; CHILD; CHROMOSOME 5P; CHROMOSOME 9P; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION 9; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 5; COMPARATIVE GENOMIC HYBRIDIZATION; DNA POLYMORPHISM; DNA SEQUENCE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; LIMB MALFORMATION; MENTAL DEFICIENCY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; TELOMERE; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHROMATIDS; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MOSAICISM; NUCLEIC ACID HYBRIDIZATION; TELOMERE; TRANSLOCATION, GENETIC;

EID: 34247216070     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.045476     Document Type: Article

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