메뉴 건너뛰기




Volumn 14, Issue 12, 2012, Pages 971-976

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

Author keywords

consanguinity; heterozygosity; incest; microarray; regions of homozygosity

Indexed keywords

ARTICLE; CLINICAL LABORATORY; CLINICAL PRACTICE; CONSANGUINITY; FOLLOW UP; HEALTH CARE PRACTICE; HEALTH CARE SURVEY; HOMOZYGOSITY; HUMAN; INCEST; INCIDENTAL FINDING; LABORATORY PERSONNEL; LABORATORY TEST; MEDICAL ETHICS; MEDICOLEGAL ASPECT; MICROARRAY ANALYSIS; PARENT; PATIENT INFORMATION; PHYSICIAN; QUESTIONNAIRE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS; UNITED STATES;

EID: 84870656049     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.83     Document Type: Article
Times cited : (18)

References (21)
  • 1
    • 69249234781 scopus 로고    scopus 로고
    • Clinical application of microarray-based molecular cytogenetics: An emerging new era of genomic medicine
    • Li MM, Andersson HC. Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine. J Pediatr 2009;155:311-317.
    • (2009) J Pediatr , vol.155 , pp. 311-317
    • Li, M.M.1    Andersson, H.C.2
  • 2
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010;12:742-745.
    • (2010) Genet Med , vol.12 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 3
    • 79951546880 scopus 로고    scopus 로고
    • Identification of incestuous parental relationships by SNP-based DNA microarrays
    • Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL. Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet 2011;377:555-556.
    • (2011) Lancet , vol.377 , pp. 555-556
    • Schaaf, C.P.1    Scott, D.A.2    Wiszniewska, J.3    Beaudet, A.L.4
  • 4
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 5
    • 77951702768 scopus 로고    scopus 로고
    • Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
    • Conlin LK, Thiel BD, Bonnemann CG, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010;19:1263-1275.
    • (2010) Hum Mol Genet , vol.19 , pp. 1263-1275
    • Conlin, L.K.1    Thiel, B.D.2    Bonnemann, C.G.3
  • 6
    • 79953321196 scopus 로고    scopus 로고
    • UPD detection using homozygosity profiling with a SNP genotyping microarray
    • Papenhausen P, Schwartz S, Risheg H, et al. UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A 2011;155A:757-768.
    • (2011) Am J Med Genet A , vol.155 A , pp. 757-768
    • Papenhausen, P.1    Schwartz, S.2    Risheg, H.3
  • 7
    • 82355181594 scopus 로고    scopus 로고
    • Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: Consanguinity, uniparental disomy, and recessive single-gene mutations
    • ix
    • Kearney HM, Kearney JB, Conlin LK. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations. Clin Lab Med 2011;31:595-613, ix.
    • (2011) Clin Lab Med , vol.31 , pp. 595-613
    • Kearney, H.M.1    Kearney, J.B.2    Conlin, L.K.3
  • 11
    • 85205886211 scopus 로고    scopus 로고
    • Consanguineous marriages: Preconception consultation in primary health care settings
    • e-pub ahead of print 22 November 2011
    • Hamamy H. Consanguineous marriages: Preconception consultation in primary health care settings. J Community Genet 2011; e-pub ahead of print 22 November 2011.
    • (2011) J Community Genet
    • Hamamy, H.1
  • 12
    • 80052606841 scopus 로고    scopus 로고
    • Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
    • Hamamy H, Antonarakis SE, Cavalli-Sforza LL, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med 2011;13:841-847.
    • (2011) Genet Med , vol.13 , pp. 841-847
    • Hamamy, H.1    Antonarakis, S.E.2    Cavalli-Sforza, L.L.3
  • 14
    • 84883825060 scopus 로고    scopus 로고
    • "It's ok, we're not cousins by blood" the cousin marriage controversy in historical perspective
    • Paul DB, Spencer HG. "It's ok, we're not cousins by blood": the cousin marriage controversy in historical perspective. PLoS Biol 2008;6:2627-2630.
    • (2008) PLoS Biol , vol.6 , pp. 2627-2630
    • Paul, D.B.1    Spencer, H.G.2
  • 15
    • 0025607008 scopus 로고
    • Incest and mental handicap
    • Jancar J, Johnston SJ. Incest and mental handicap. J Ment Defic Res 1990; 34 (Pt 6):483-490.
    • (1990) J Ment Defic Res , vol.34 , Issue.PART 6 , pp. 483-490
    • Jancar, J.1    Johnston, S.J.2
  • 16
    • 77951435275 scopus 로고    scopus 로고
    • Homozygosity mapping: One more tool in the clinical geneticist's toolbox
    • Alkuraya FS. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med 2010;12:236-239.
    • (2010) Genet Med , vol.12 , pp. 236-239
    • Alkuraya, F.S.1
  • 17
    • 62149085882 scopus 로고    scopus 로고
    • Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
    • Bruno DL, Ganesamoorthy D, Schoumans J, et al. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 2009;46:123-131.
    • (2009) J Med Genet , vol.46 , pp. 123-131
    • Bruno, D.L.1    Ganesamoorthy, D.2    Schoumans, J.3
  • 18
    • 0017459421 scopus 로고
    • The distribution of the proportion of the genome which is homozygous by descent in inbred individuals
    • Franklin IR. The distribution of the proportion of the genome which is homozygous by descent in inbred individuals. Theor Popul Biol 1977;11:60-80.
    • (1977) Theor Popul Biol , vol.11 , pp. 60-80
    • Franklin, I.R.1
  • 19
    • 85205888030 scopus 로고    scopus 로고
    • Reporting child abuse or neglect, 2151. 421 Title 21. Courts-Probate-Juvenile (2004)
    • Reporting child abuse or neglect, 2151. 421 Title 21. Courts-Probate-Juvenile (2004).
  • 20
    • 85205893052 scopus 로고    scopus 로고
    • Reporting abuse, neglect, and other major unusual incidents, 5123. 61 Title 51. Public Welfare 2004
    • Reporting abuse, neglect, and other major unusual incidents, 5123. 61 Title 51. Public Welfare (2004).
  • 21
    • 73849108033 scopus 로고    scopus 로고
    • Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
    • Tsuchiya KD, Shaffer LG, Aradhya S, et al. Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med 2009;11:866-873.
    • (2009) Genet Med , vol.11 , pp. 866-873
    • Tsuchiya, K.D.1    Shaffer, L.G.2    Aradhya, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.