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Volumn 47, Issue 3, 2010, Pages 277-279

Supernumerary marker chromosome in a child with microcephaly and mental retardation

Author keywords

Array CGH; Constitutional disorders; Microcephaly; Supernumerary marker chromosome; Trisomy 18p

Indexed keywords

APNEA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC ACCURACY; DNA MICROARRAY; FEMALE; HUMAN; MARKER CHROMOSOME; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; PRESCHOOL CHILD; SUPERNUMERARY CHROMOSOME; TORTICOLLIS;

EID: 77949752588     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: 10.1007/s13312-010-0038-x     Document Type: Article
Times cited : (6)

References (10)
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  • 2
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  • 3
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    • http://www.med.uni-jena.de/fish/sSMC/ 00START.htm. Accessed January 27th 2009.
  • 4
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    • Chromosome abnormalities without phenotypic consequences
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  • 5
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    • Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
    • Mabboux P, Brisset S, Aboura A, Pineau D, Koubi V, Joannidis S, et al. Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation. Am J Med Genet 2007; 143: 727-733.
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  • 8
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    • Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin
    • Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, et al. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. Am J Med Genet 2000; 92: 101-106.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.