StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	25799107	de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP	Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring	Am J Hum Genet	2015 Apr	9,10,14,16	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Mother1	AB SOLiD 4 System		hs9:10640282-10641388,hg9:12067163-12069048;hs10:85708440-85709723,hs16:62811907-62813013;hs9:10643066-10645130,hs14:87959160-87960589;hs9:9874447-9875887,hs9:10397725-10400216;hs9:9877636-9880121,hs9:10184962-10187413;hs16:62814654-62819507,hs16:62837225-62840110;hs9:9039041-9043602,hs9:12069501-12073773;hs9:633474-636448,hs9:9043966-9046015;hs9:9043986-9045832,hs10:84550840-84554624;hs10:85704055-85707766,hs16:62832514-62837165;hs14:87956251-87957402,hs9:630972-632755;hs10:84549834-84549834,hs9:9048033-9048033;hs9:10182312-10184604,hs9:10400974-10404035	PTPRD;KANK1;NRG3	Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, the Netherlands	Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. The chromothripsis in the mothers resulted in completely balanced rearrangements involving 8-23 breakpoint junctions across three to five chromosomes. Two mothers did not show any phenotypic abnormalities, although 3-13 protein-coding genes were affected by breakpoints. Unbalanced but stable transmission of a subset of the derivative chromosomes caused apparently de novo complex copy-number changes in two children. This resulted in gene-dosage changes, which are probably responsible for the severe congenital phenotypes of these two children. In contrast, the third child, who has a severe congenital disease, harbored all three chromothripsis chromosomes from his healthy mother, but one of the chromosomes acquired de novo rearrangements leading to copy-number changes. These results show that the human genome can tolerate extreme reshuffling of chromosomal architecture, including breakage of multiple protein-coding genes, without noticeable phenotypic effects. The presence of chromothripsis in healthy individuals affects reproduction and is expected to substantially increase the risk of miscarriages, abortions, and severe congenital disease.	GRCh37/hg19	GSE65454			No	NA
Research	25799107	de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP	Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring	Am J Hum Genet	2015 Apr	6,7,9,10,12	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Mother2	AB SOLiD 4 System		hs7:36718108-36721671,hs12:99787831-99790893;hs9:11739802-11742710,hs9:31460247-31463007;hs9:11758195-11759972,hs12:110263742-110266538;hs9:7104763-7106960,hs12:103464346-103466774;hs9:12236188-12238989,hs9:26965673-26968013;hs9:13236665-13239425,hs12:101859464-101861141;hs6:123750357-123752276,hs9:11743072-11746336;hs6:123765872-123766384,hs12:101856510-101856537;hs9:31433337-31436333,hs9:31463517-31465231;hs9:31471300-31473229,hs12:99435218-99436825;hs6:123748945-123750012,hs6:123768304-123769906;hs10:66227201-66230197,hs12:99785257-99787355;hs9:8118030-8119888,hs10:65848657-65850658;hs7:36714976-36717979,hs12:103467238-103470137;hs9:7107641-7109780,hs9:35723601-35726283;hs9:13334672-13337076,hs9:31473792-31476201;hs9:13240004-13241557,hs9:26962041-26964677;hs9:7116561-7120299,hs9:31436447-31440029;hs9:8121313-8122780,hs9:11760865-11763707;hs9:12233990-12236078,hs12:99431406-99434124;hs9:7113602-7116395,hs12:110267135-110269429;hs9:13337440-13340068,hs12:99636114-99638904;hs10:65844061-65847557,hs10:66230913-66234003;hs12:99634461-99634461,hs9:35727377-35727377	AOAH;ANKS1B;TRPV4;KDM4C;MPDZ;IFT74;TRDN;TLN1;CREB3	Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, the Netherlands	Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. The chromothripsis in the mothers resulted in completely balanced rearrangements involving 8-23 breakpoint junctions across three to five chromosomes. Two mothers did not show any phenotypic abnormalities, although 3-13 protein-coding genes were affected by breakpoints. Unbalanced but stable transmission of a subset of the derivative chromosomes caused apparently de novo complex copy-number changes in two children. This resulted in gene-dosage changes, which are probably responsible for the severe congenital phenotypes of these two children. In contrast, the third child, who has a severe congenital disease, harbored all three chromothripsis chromosomes from his healthy mother, but one of the chromosomes acquired de novo rearrangements leading to copy-number changes. These results show that the human genome can tolerate extreme reshuffling of chromosomal architecture, including breakage of multiple protein-coding genes, without noticeable phenotypic effects. The presence of chromothripsis in healthy individuals affects reproduction and is expected to substantially increase the risk of miscarriages, abortions, and severe congenital disease.	GRCh37/hg19	GSE65454			No	NA
Research	25799107	de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP	Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring	Am J Hum Genet	2015 Apr	1,3,5	Congenital abnormality	Next Generation Sequencing	Homo sapiens	Mother3	AB SOLiD 4 System		hs3:158384939-158388876,hs3:195632595-195635632;hs1:154441965-154444308,hs3:195630328-195631725;hs1:154445895-154448216,hs3:156530510-156533437;hs1:153155549-153158347,hs5:29436496-29438223;hs1:151021102-151023743,hs5:29433067-29436167;hs3:128911732-128913422,hs3:156534632-156536932;hs1:153746565-153748730,hs3:158389428-158392531;hs1:151018679-151020295,hs1:153151785-153154013	GFM1;LXN;TNK2;SHE;IL6R;C1orf56;BNIPL;CDC42SE1;MLLT11;LEKR1;PA2G4P4;SLC27A3;INTS3	Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, the Netherlands	Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. The chromothripsis in the mothers resulted in completely balanced rearrangements involving 8-23 breakpoint junctions across three to five chromosomes. Two mothers did not show any phenotypic abnormalities, although 3-13 protein-coding genes were affected by breakpoints. Unbalanced but stable transmission of a subset of the derivative chromosomes caused apparently de novo complex copy-number changes in two children. This resulted in gene-dosage changes, which are probably responsible for the severe congenital phenotypes of these two children. In contrast, the third child, who has a severe congenital disease, harbored all three chromothripsis chromosomes from his healthy mother, but one of the chromosomes acquired de novo rearrangements leading to copy-number changes. These results show that the human genome can tolerate extreme reshuffling of chromosomal architecture, including breakage of multiple protein-coding genes, without noticeable phenotypic effects. The presence of chromothripsis in healthy individuals affects reproduction and is expected to substantially increase the risk of miscarriages, abortions, and severe congenital disease.	GRCh37/hg19	GSE65454			No	NA