StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	23860044	Lusine Nazaryan, Eunice G Stefanou, Claus Hansen, Nadezda Kosyakova, Mads Bak, Freddie H Sharkey, Theodora Mantziou, Anastasios D Papanastasiou, Voula Velissariou, Thomas Liehr, Maria Syrrou, and Niels Tommerup	The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2	Eur J Hum Genet	2013 Jul	2,5,7,16	Developmental delay	Next Generation Sequencing	Homo sapiens	23860044_1	Roche- Nimblegen 12x135K wholegenome array + Illumina Genome Analyzer IIx	chr7:12814117-14251879:1;chr7:13505886-114129050:1	hs2:56842021-56843702,hs5:14939951-14942072;hs5:14937322-14939104,hs7:114129941-114130585;hs2:41655927-41657380,hs5:17605465-17606575;hs16:12911097-12911134,hs18:7850070-7850105;hs5:150566906-150566941,hs14:59017557-59017594;hs2:41654255-41655319,hs2:60301348-60302967;hs5:12445869-12447205,hs5:24398254-24399503;hs5:15076731-15078724,hs5:22227821-22229757;hs2:56844026-56845886,hs2:60304057-60305174;hs5:12444115-12445044,hs5:15074553-15076007;hs7:12810996-12811974,hs7:13503520-13504608;hs2:161019051-161022248,hs2:164128044-164131466	CDH12;DGKB;FOXP2	Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark	Next-generation mate-pair sequencing (MPS) has revealed that many constitutional complex chromosomal rearrangements (CCRs) are associated with local shattering of chromosomal regions (chromothripsis). Although MPS promises to identify the molecular basis of the abnormal phenotypes associated with many CCRs, none of the reported mate-pair sequenced complex rearrangements have been simultaneously studied with state-of-the art molecular cytogenetic techniques. Here, we studied chromothripsis-associated CCR involving chromosomes 2, 5 and 7, associated with global developmental and psychomotor delay and severe speech disorder. We identified three truncated genes: CDH12, DGKB and FOXP2, confirming the role of FOXP2 in severe speech disorder, and suggestive roles of CDH12 and/or DGKB for the global developmental and psychomotor delay. Our study confirmes the power of MPS for detecting breakpoints and truncated genes at near nucleotide resolution in chromothripsis. However, only by combining MPS data with conventional G-banding and extensive fluorescence in situ hybridizations could we delineate the precise structure of the derivative chromosomes.	GRCh37/hg19				No	NA