A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1587-1594

  Brown, Lindsay A ^a   Rupps, Rosemarie ^a   Peñaherrera, Maria S ^a,b   Robinson, Wendy P ^a,b   Patel, Millan S ^a   Eydoux, Patrice ^a   Boerkoel, Cornelius F ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

11p15 duplication; Beckwith Wiedemann syndrome; Imprinting; Silver Russell syndrome

Indexed keywords

ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 11P; CHROMOSOME 1P; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CHROMOSOME SIZE; DISEASE TRANSMISSION; FAMILIAL DISEASE; FAMILY HISTORY; FAMILY STUDY; FATHER; FEMALE; GENETIC RECOMBINATION; GENOME IMPRINTING; HUMAN; HUMAN CELL; INHERITANCE; MEIOSIS; METHYLATION; MICROARRAY ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; ADOLESCENT; CHROMOSOME 11; DNA METHYLATION; DNA MICROARRAY; FACIES; FAMILY; GENE DUPLICATION; GENE REARRANGEMENT; GENETICS; GROWTH DISORDER; MALE; NUCLEOTIDE SEQUENCE; SILVER RUSSELL SYNDROME;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FACIES; FAMILY; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SILVER-RUSSELL SYNDROME;

EID: 84899993835     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36490     Document Type: Article

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