메뉴 건너뛰기




Volumn 72, Issue 4, 2007, Pages 329-338

Identification of proximal 1p36 deletions using array-CGH: A possible new syndrome

Author keywords

Array CGH; Cardiac malformations; Chromosome abnormality; Hirsutism; Proximal 1p36 deletion

Indexed keywords

ARTICLE; CARDIOMYOPATHY; CARDIOVASCULAR MALFORMATION; CHROMOSOME 1P; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; ECHOGRAPHY; FACIES; FEMALE; GENE DELETION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MONOSOMY; MONOSOMY 1P36 SYNDROME; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; WOLFF PARKINSON WHITE SYNDROME;

EID: 34548585122     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00876.x     Document Type: Article
Times cited : (47)

References (23)
  • 1
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 2000: 34: 297-329.
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 2
    • 13444287929 scopus 로고    scopus 로고
    • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or "deletion with positional effect" syndrome?
    • Redon R, Rio M, Gregory SG et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or "deletion with positional effect" syndrome? J Med Genet 2005: 42: 166-171.
    • (2005) J Med Genet , vol.42 , pp. 166-171
    • Redon, R.1    Rio, M.2    Gregory, S.G.3
  • 3
    • 0030870848 scopus 로고    scopus 로고
    • Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
    • Shapira SK, McCaskill C, Northrup H et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997: 61: 642-650.
    • (1997) Am J Hum Genet , vol.61 , pp. 642-650
    • Shapira, S.K.1    McCaskill, C.2    Northrup, H.3
  • 4
    • 0032898935 scopus 로고    scopus 로고
    • Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
    • Wu Y, Heilstedt H, Bedell J et al. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 1999: 8: 313-321.
    • (1999) Hum Mol Genet , vol.8 , pp. 313-321
    • Wu, Y.1    Heilstedt, H.2    Bedell, J.3
  • 6
    • 33646044698 scopus 로고    scopus 로고
    • Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1
    • Gajecka M, Glotzbach CD, Shaffer LG. Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res 2006: 14: 277-282.
    • (2006) Chromosome Res , vol.14 , pp. 277-282
    • Gajecka, M.1    Glotzbach, C.D.2    Shaffer, L.G.3
  • 7
    • 0141955800 scopus 로고    scopus 로고
    • Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality
    • Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 2003: 64: 310-316.
    • (2003) Clin Genet , vol.64 , pp. 310-316
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3    Kashork, C.D.4    Shaffer, L.G.5
  • 8
    • 34548583987 scopus 로고    scopus 로고
    • Delineation of deletion breakpoints in patients with monosomy 1p36 using a combination of Chromosomal Microarray Analysis and FISH
    • Presented at the 28 October 2005, Salt Lake City, Utah
    • Kang S-HL, Bacino CA, Li J et al. Delineation of deletion breakpoints in patients with monosomy 1p36 using a combination of Chromosomal Microarray Analysis and FISH. Presented at the annual meeting of The American Society of Human Genetics, 28 October 2005, Salt Lake City, Utah. 2005.
    • (2005) Annual Meeting of The American Society of Human Genetics
    • Kang, S.-H.L.1    Bacino, C.A.2    Li, J.3
  • 9
    • 23744491866 scopus 로고    scopus 로고
    • Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    • Cheung SW, Shaw CA, Yu W et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 2005: 7: 422-432.
    • (2005) Genet Med , vol.7 , pp. 422-432
    • Cheung, S.W.1    Shaw, C.A.2    Yu, W.3
  • 10
    • 34249717942 scopus 로고    scopus 로고
    • Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
    • Lu X, Shaw CA, Patel A et al. Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases. PLoS ONE 2007: 2: e327.
    • (2007) PLoS ONE , vol.2
    • Lu, X.1    Shaw, C.A.2    Patel, A.3
  • 11
    • 1242269840 scopus 로고    scopus 로고
    • Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
    • Shaw CJ, Shaw CA, Yu W et al. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet 2004: 41: 113-119.
    • (2004) J Med Genet , vol.41 , pp. 113-119
    • Shaw, C.J.1    Shaw, C.A.2    Yu, W.3
  • 12
    • 33645993906 scopus 로고    scopus 로고
    • Efficient calculation of interval scores for DNA copy number data analysis
    • Lipson D, Aumann Y, Ben-Dor A, Linial N, Yakhini Z. Efficient calculation of interval scores for DNA copy number data analysis. J Comput Biol 2006: 13: 215-228.
    • (2006) J Comput Biol , vol.13 , pp. 215-228
    • Lipson, D.1    Aumann, Y.2    Ben-Dor, A.3    Linial, N.4    Yakhini, Z.5
  • 13
    • 0038406165 scopus 로고    scopus 로고
    • Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    • Heilstedt HA, Ballif BC, Howard LA et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003: 72: 1200-1212.
    • (2003) Am J Hum Genet , vol.72 , pp. 1200-1212
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3
  • 14
    • 0025134022 scopus 로고
    • Deletion of chromosome 1p: A short review
    • Howard PJ, Porteus M. Deletion of chromosome 1p: A short review. Clin Genet 1990: 37: 127-131.
    • (1990) Clin Genet , vol.37 , pp. 127-131
    • Howard, P.J.1    Porteus, M.2
  • 16
    • 0027476712 scopus 로고
    • Constitutional 1p36 deletion in a child with neuroblastoma
    • Biegel JA, White PS, Marshall HN et al. Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet 1993: 52: 176-182.
    • (1993) Am J Hum Genet , vol.52 , pp. 176-182
    • Biegel, J.A.1    White, P.S.2    Marshall, H.N.3
  • 17
    • 20944437124 scopus 로고    scopus 로고
    • Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma
    • White PS, Thompson PM, Gotoh T et al. Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. Oncogene 2005: 24: 2684-2694.
    • (2005) Oncogene , vol.24 , pp. 2684-2694
    • White, P.S.1    Thompson, P.M.2    Gotoh, T.3
  • 18
    • 33846703338 scopus 로고    scopus 로고
    • CHD5 is a tumor suppressor at human 1p36
    • Bagchi A, Papazoglu C, Wu Y et al. CHD5 is a tumor suppressor at human 1p36. Cell 2007: 128: 459-475.
    • (2007) Cell , vol.128 , pp. 459-475
    • Bagchi, A.1    Papazoglu, C.2    Wu, Y.3
  • 20
    • 0018497405 scopus 로고
    • Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS)
    • Francke U, Opitz JM. Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). J Pediatr 1979: 95: 161-163.
    • (1979) J Pediatr , vol.95 , pp. 161-163
    • Francke, U.1    Opitz, J.M.2
  • 21
    • 0017855091 scopus 로고
    • The association of chromosome 3 duplication and the Cornelia de Lange syndrome
    • Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 1978: 93: 783-788.
    • (1978) J Pediatr , vol.93 , pp. 783-788
    • Wilson, G.N.1    Hieber, V.C.2    Schmickel, R.D.3
  • 22
    • 0024343237 scopus 로고
    • Duplication of distal 17q from a maternal translocation: An additional case with some unique features
    • Caine A, Knapton DM, Mueller RF, Congdon PJ, Haigh D. Duplication of distal 17q from a maternal translocation: An additional case with some unique features. J Med Genet 1989: 26: 577-579.
    • (1989) J Med Genet , vol.26 , pp. 577-579
    • Caine, A.1    Knapton, D.M.2    Mueller, R.F.3    Congdon, P.J.4    Haigh, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.