Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant

European Journal of Medical Genetics

Volumn 51, Issue 2, 2008, Pages 148-155

  Bonaglia, Maria Clara ^a   Giorda, Roberto ^a   Beri, Silvana ^a   Peters, Gregory B ^b   Kirk, Edwin P ^c,f   Hung, Dorothy ^b   Ciccone, Roberto ^d   Gottardi, Giulietta ^a   Zuffardi, Orsetta ^d,e  

^a SCIENTIFIC INSTITUTE   (Italy)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c SYDNEY CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF PAVIA   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^f School of Women's and Children's Health UNSW Australia   (Australia)

Author keywords

Angelman syndrome; CNV; Polymorphic variants; Recurrent benign subtelomeric variant

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 20Q; CHROMOSOME 22Q; CHROMOSOME 6P; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME VARIANT; COMPARATIVE GENOMIC HYBRIDIZATION; DNA FLANKING REGION; DNA TRANSPOSITION; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; INFANT; MALE; NUCLEOTIDE SEQUENCE; TELOMERE;

ANGELMAN SYNDROME; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 20; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 6; HUMANS; INFANT; MALE; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, GENETIC; TELOMERE; VARIATION (GENETICS);

EID: 40649118495     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.11.005     Document Type: Article

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