DNA sample from miscarriage with a de novo t(4;10;20)

ERS075290 SAMEA1094632 DNA sample from miscarriage with a de novo t(4;10;20) 9606 Homo sapiens "Patient described in Prenatal diagnosis 26, 565-70 (2006). Karyotype: 46,XX,t(4;10;20)(q24;q26;q13.3)dn.ish t(4;10;20)ins(4;8)(q?;??)(wcp4+,RP11-183B1+,wcp20+;wcp10+,RP11-183B1+,wcp4+,wcp8+;wcp20+,wcp10+). ArrayCGH (Agilent, 244K, gh19 coordinates): arr 4q24(102,130,448-104,638,978)x1,4q28.3q31.21(133,145,252-141,987,611)x1,10q25.1q25.2(111,449,515-111,944,116)x1 dn" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094632 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient6 common name human sample name patient6 ERS075295 SAMEA1094636 DNA sample of mother from patient with multiple congenital defects and de novo deletions on chromosome 5 9606 Homo sapiens mother of patient 8 ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094636 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient8_mother common name human sample name patient8_mother ERS075289 SAMEA1094629 DNA sample from patient with multiple congenital defects and a de novo inversion and deletions on chromosome 6 9606 Homo sapiens "Patient described in: Eur J Med Genet 52, 27-30 (2009). Karyotype: 46,XX,der(6)(pter->p12.3::p12.1->p12.1::q14.3-> p12.1::p12.3->p12.2::q16.1->qter). SNParray (Infinium HumanHap300 Genotyping BeadChip, Illumina): arr del(6)(p23)(rs6458687x2,rs6458690x1,rs6905366x1,rs700002x2), del(6)(p12.2)(rs1342622x2,rs10498786x1,rs9463802x1,rs2063643x2) , del(6)(q14.3q16.1)(rs2324476x2,rs707016x1,rs2799633x1,rs2745650x2) ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094629 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient5 common name human sample name patient5 ERS075297 SAMEA1094627 "DNA sample from patient with multiple congenital defects and four de novo duplications (two on chr8, one on chr14 and one on chr4)" 9606 Homo sapiens "ArrayCGH (188K oligo array, Agilent): 4q24(A_16_P01040754>A_14_P133900)x3 dn, 8q11.23(A_16_P18305019>A_16_P18308134)x3 dn, 8q21.13(A_16_P18367478->A_14_P201309)x3 dn, 14q24.2(A_16_P20087750->A_14_P129357)x3 dn" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094627 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient10 common name human sample name patient10 ERS075288 SAMEA1094626 DNA sample from patient with multiple congenital defects and a de novo t(2;14) 9606 Homo sapiens "Karyotype: 46,XY,t(2;14)" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094626 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient4 common name human sample name patient4 ERS075287 SAMEA1094625 DNA sample from patient with multiple congenital defects and a de novo t(1;12;7) 9606 Homo sapiens "Karyotype: 46,XX,t(1;12;7)(p21;q14;p21).ish. Array (BlueGenome Cytochip v1.1, hg18 coordinates): del(7)(p21.2p21.3)(RP11-512E16-).arr 7p21.3p21.2(12,725,574- 15,056,327)x1 dn." ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094625 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient3 common name human sample name patient3 ERS075286 SAMEA1094628 DNA sample of patient with multiple congenital defects and a de novo t(2;8) 9606 Homo sapiens "Karyotype: 46,XX,der(2)t(2;8)(q23;q23.3),der(8)t(2;8)(q23;q23.3)ins(13;8)(q32;q11.2q21.2)der(13)ins(13;8)(q32;q11.2q21.2). SNParray (250K Nspl GeneChip Affymetrix): arr 2q24.2q24.3(SNP_A-2022104->SNP_A-2031824)x1 dn, 2q32.3q32.3(SNP_A-2101520->SNP_A-4269067)x1 dn, 9p24.1p24.1(SNP_A-2153117->SNP_A-2134293)x1 dn, 13q31.3q31.3(SNP_A-2241648->SNP_A-2173734)x1 dn" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094628 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient2 common name human sample name patient2 ERS075285 SAMEA1094637 DNA sample of father from patient with multiple congenital defects and a de novo t(1;15) 9606 Homo sapiens mother of patient 2 ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094637 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient1_father common name human sample name patient1_father ERS075284 SAMEA1094635 DNA sample of mother from patient with multiple congenital defects and a de novo t(1;15) 9606 Homo sapiens mother of patient 1 ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094635 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient1_mother common name human sample name patient1_mother ERS075283 SAMEA1094634 DNA sample from patient with multiple congenital defects and a de novo t(1;15) 9606 Homo sapiens "Patient described in Eur J Med Genet 52, 218-23 (2009). Karyotype: 46,XY,t(1;15)(q42;q11.2)ins(1;2)(q42;q14.3q31.2)dn. ArrayCGH (Agilent, 244K, gh19 coordinates): arr 2q14.3(124,079,356-127,101,001)x1,2q22.2q22.3(143,614,744-144,351,968)x1,2q31.2(178,130,381-178,692,220)x1 dn" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094634 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient1 common name human sample name patient1 ERS075294 SAMEA1094639 DNA sample from patient with multiple congenital defects and de novo deletions on chromosome 5 9606 Homo sapiens "ArrayCGH (250K Nspl GeneChip Affymetrix): arr snp 5q14.3(rs4920853->rs1862233)x1, 5q14.3(rs16902356->rs10051603)x1,5q14.3(rs7715840-> rs1062035)x1,5q14.3(rs357509->rs304151)x1,5q33.3(rs6556381->rs9637861)x1,5q33.3(rs6884239->rs3846687)x1" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094639 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient8 common name human sample name patient8 ERS075293 SAMEA1094624 DNA sample from father of patient with multiple congenital defects and an inherited complex rearrangement on chromosome 9 and chromosome 12 9606 Homo sapiens father of patient 7 ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094624 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient7_father common name human sample name patient7_father ERS075292 SAMEA1094633 DNA sample from mother of patient with multiple congenital defects and an inherited complex rearrangement on chromosome 9 and chromosome 12 9606 Homo sapiens "mother of patient 7, the rearrangement in patient 7 was inherited from the mother. The mother was copy neutral. Karyotype: 46,XY,der(12)dir ins(12;9)(q23;p21p23). " ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094633 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient7_mother common name human sample name patient7_mother ERS075291 SAMEA1094630 DNA sample from patient with multiple congenital defects and an inherited complex rearrangement on chromosome 9 and chromosome 12 9606 Homo sapiens "Patient described in Clinical genetics 62, 482-7 (2002). Karyotype: 46,XY,der(12)dir ins(12;9)(q23;p21p23)mat. SNParray (Infinium HumanHap300 Genotyping BeadChip, Illumina): arr dup(9)(p21p23)(rs4740872x2, rs7860449x3,rs946452x3,rs1339284x2)(rs11790910x2,rs11793993x3,rs7038314x3, rs7863476x2)(rs10120052x2,rs13285154x3,rs2295797x3, rs3763630x2) arr del(12)(q23)(rs7965233x2,rs1007916x1,rs11111423x1,rs4764936x2)" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094630 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient7 common name human sample name patient7 ERS075296 SAMEA1094638 DNA sample from patient with multiple congenital defects and two inherited duplications and one inherited deletion on chromosome X 9606 Homo sapiens "ArrayCGH (188K oligo array, Agilent): Xp22.2(A_16_P03651849->A_14_P112163)x2 mat, Xp22.2(A_16_P03652766->A_16_P03652877)x2 mat" ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094638 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient9 common name human sample name patient9 ERS075298 SAMEA1094623 "DNA sample from father of patient with multiple congenital defects and four de novo duplications (two on chr8, one on chr14 and one on chr4)" 9606 Homo sapiens father of patient 10 ENA-FIRST-PUBLIC 2011-11-30 ENA-LAST-UPDATE 2013-11-04 External Id SAMEA1094623 INSDC center alias UMCU INSDC center name University Medical Center Utrecht INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient10_father common name human sample name patient10_father ERS075299 SAMEA1094631 DNA sample from mother of patient with multiple congenital defects and four de novo duplications (two on chr8, one on chr14 and one on chr4) 9606 Homo sapiens mother of patient 10 ENA-FIRST-PUBLIC 2011-11-30T17:20:25Z ENA-LAST-UPDATE 2013-11-04T20:05:25Z External Id SAMEA1094631 INSDC center name UMCU INSDC first public 2011-11-30T17:20:25Z INSDC last update 2013-11-04T20:05:25Z INSDC status public Submitter Id patient10_mother common name human sample name patient10_mother scientific_name Homo sapiens