The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 338-343

  Nazaryan, Lusine ^a   Stefanou, Eunice G ^b   Hansen, Claus ^a   Kosyakova, Nadezda ^c   Bak, Mads ^a   Sharkey, Freddie H ^d   Mantziou, Theodora ^e   Papanastasiou, Anastasios D ^f   Velissariou, Voula ^g   Liehr, Thomas ^c   Syrrou, Maria ^e   Tommerup, Niels ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY GENERAL HOSPITAL OF PATRAS   (Greece)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e UNIVERSITY OF IOANNINA   (Greece)

^f UNIVERSITY OF PATRAS   (Greece)

^g HYGEIA HOSPITAL   (Greece)

Author keywords

CDH12; chromothripsis; complex chromosomal rearrangements; DGKB; FOXP2; mate pair sequencing

Indexed keywords

CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FORKHEAD TRANSCRIPTION FACTORS; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; SEQUENCE ANALYSIS, DNA; SPEECH DISORDERS;

EID: 84894305155     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.147     Document Type: Article

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