A germline chromothripsis event stably segregating in 11 individuals through three generations

Genetics in Medicine

Volumn 18, Issue 5, 2016, Pages 494-500

  Bertelsen, Birgitte ^a   Nazaryan Petersen, Lusine ^a   Sun, Wei ^b   Mehrjouy, Mana M ^c   Xie, Gangcai ^b   Chen, Wei ^b   Hjermind, Lena E ^d   Taschner, Peter E M ^e   Tümer, Zeynep ^a  

^a Mental Health Center Glostrup   (Denmark)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e UNIVERSITY OF APPLIED SCIENCES LEIDEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ATR PROTEIN;

ADULT; AGED; ARTICLE; CHROMOSOME; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; DNA DAMAGE; FEMALE; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIATION; GERM LINE; GERM LINE CHROMOTHRIPSIS; HUMAN; HUMAN GENOME; MALE; NOMENCLATURE; POLYMERASE CHAIN REACTION; SPONTANEOUS ABORTION; VERY ELDERLY; ADOLESCENT; CHILD; CHROMOTHRIPSIS; CONGENITAL DISORDER; CYTOLOGY; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETICS; GERM CELL; HETEROZYGOTE; PATHOPHYSIOLOGY;

ABORTION, SPONTANEOUS; ADOLESCENT; ADULT; CHILD; CHROMOTHRIPSIS; CONGENITAL ABNORMALITIES; FEMALE; GENE REARRANGEMENT; GERM CELLS; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 84964847934     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.112     Document Type: Article

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