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Volumn 51, Issue 3, 2008, Pages 219-225

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

Author keywords

19p13.11; Array CGH; Complex intrachromosomal rearrangement; Duplication; Mental retardation; Microcephaly; Triplication; Ventricular septal defect

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; MICROCEPHALY; PALATOPHARYNGEAL INCOMPETENCE; PRESCHOOL CHILD;

EID: 43049154367     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.12.009     Document Type: Article
Times cited : (7)

References (21)
  • 1
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    • Aten J.A., Stap J., Krawczyk P.M., van Oven C.H., Hoebe R.A., Essers J., and Kanaar R. Dynamics of DNA double-strand breaks revealed by clustering of damaged chromosome domains. Science 303 5654 (2004) 92-95
    • (2004) Science , vol.303 , Issue.5654 , pp. 92-95
    • Aten, J.A.1    Stap, J.2    Krawczyk, P.M.3    van Oven, C.H.4    Hoebe, R.A.5    Essers, J.6    Kanaar, R.7
  • 2
    • 0031864888 scopus 로고    scopus 로고
    • De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review
    • Batanian J.R., and Eswara M.S. De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review. Am. J. Med. Genet. 78 1 (1998) 44-51
    • (1998) Am. J. Med. Genet. , vol.78 , Issue.1 , pp. 44-51
    • Batanian, J.R.1    Eswara, M.S.2
  • 14
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • Stankiewicz P., and Beaudet A.L. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr. Opin. Genet. Dev. 17 3 (2007) 182-192
    • (2007) Curr. Opin. Genet. Dev. , vol.17 , Issue.3 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 15
    • 33748453339 scopus 로고    scopus 로고
    • Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies
    • Thienpont B., Gewillig M., Fryns J.P., Devriendt K., and Vermeesch J.R. Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet. Genome. Res. 114 3 (2006) 338-341
    • (2006) Cytogenet. Genome. Res. , vol.114 , Issue.3 , pp. 338-341
    • Thienpont, B.1    Gewillig, M.2    Fryns, J.P.3    Devriendt, K.4    Vermeesch, J.R.5
  • 16
    • 38449092383 scopus 로고    scopus 로고
    • A microduplication of CBP in a patient with mental retardation and a congenital heart defect
    • Thienpont B., Breckpot J., Holvoet M., Vermeesch J.R., and Devriendt K. A microduplication of CBP in a patient with mental retardation and a congenital heart defect. Am. J. Med. Genet. A 143 18 (2007) 2160-2164
    • (2007) Am. J. Med. Genet. A , vol.143 , Issue.18 , pp. 2160-2164
    • Thienpont, B.1    Breckpot, J.2    Holvoet, M.3    Vermeesch, J.R.4    Devriendt, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.