title: DNA sample from patient with multiple congenital defects and an inherited complex rearrangement on chromosome 9 and chromosome 12
organism: Homo sapiens
description: "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)"
attributes.tag: ENA-FIRST-PUBLIC
attributes.value: 2011-11-30
attributes.tag: ENA-LAST-UPDATE
attributes.value: 2013-11-04
attributes.tag: External Id
attributes.value: SAMEA1094630
attributes.tag: INSDC center alias
attributes.value: UMCU
attributes.tag: INSDC center name
attributes.value: University Medical Center Utrecht
attributes.tag: INSDC first public
attributes.value: 2011-11-30T17:20:25Z
attributes.tag: INSDC last update
attributes.value: 2013-11-04T20:05:25Z
attributes.tag: INSDC status
attributes.value: public
attributes.tag: Submitter Id
attributes.value: patient7
attributes.tag: common name
attributes.value: human
attributes.tag: sample name
attributes.value: patient7