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Volumn 116, Issue 1, 2003, Pages 66-70

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

Author keywords

Chromosome 12p; Developmental delay; Interstitial deletion

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 12P; CLINICAL EXAMINATION; DEVELOPMENTAL DISORDER; GENE SEQUENCE; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0037223418     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10878     Document Type: Article
Times cited : (13)

References (11)
  • 1
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    • Baehring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, Muhl A, Wienker TF, Schuster H, Luft FC. 1997. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Hum Genet 60:732-735.
    • (1997) Am J Hum Genet , vol.60 , pp. 732-735
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  • 2
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    • A new case of partial monosomy of chromosome 12, del(12)(pll.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B
    • Boilly-Dartigalongue B, Riviere D, Junien C, Couturier J, Toudic L, Marie F, Castel Y. 1985. A new case of partial monosomy of chromosome 12, del(12)(pll.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B. Ann Genet 28:55-57.
    • (1985) Ann Genet , vol.28 , pp. 55-57
    • Boilly-Dartigalongue, B.1    Riviere, D.2    Junien, C.3    Couturier, J.4    Toudic, L.5    Marie, F.6    Castel, Y.7
  • 3
    • 0025287936 scopus 로고
    • Interstitial deletion of the short arm of chromosome 12
    • Fryns JP, Kleczkowska A, Van den Berghe H. 1990. Interstitial deletion of the short arm of chromosome 12. Ann Genet 33:43-45.
    • (1990) Ann Genet , vol.33 , pp. 43-45
    • Fryns, J.P.1    Kleczkowska, A.2    Van den Berghe, H.3
  • 4
    • 0000579784 scopus 로고
    • Chromosome analysis by non-isotopic in situ hybridization
    • Rooney DE, Czepulkowski BH, editors. Oxford: Oxford University Press
    • Lichter P, Cremer T. 1992. Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetics: A Practical Approach. Oxford: Oxford University Press.
    • (1992) Human Cytogenetics: A Practical Approach
    • Lichter, P.1    Cremer, T.2
  • 5
    • 0019460218 scopus 로고
    • Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: Confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB
    • Magenis E, Brown MG, Chamberlin J, Donlon T, Hepburn D, Lamvik N, Lovrien E, Yoshitomi M. 1981. Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: Confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB. Am J Med Genet 9:95-103.
    • (1981) Am J Med Genet , vol.9 , pp. 95-103
    • Magenis, E.1    Brown, M.G.2    Chamberlin, J.3    Donlon, T.4    Hepburn, D.5    Lamvik, N.6    Lovrien, E.7    Yoshitomi, M.8
  • 8
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    • Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome
    • Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. 1995. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 55:16-18.
    • (1995) Am J Med Genet , vol.55 , pp. 16-18
    • Nagai, T.1    Nishimura, G.2    Kato, R.3    Hasegawa, T.4    Ohashi, H.5    Fukushima, Y.6
  • 9
    • 0016838868 scopus 로고
    • Short arm deletion of chromosome 12: Report of two new cases
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  • 10
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    • Chromosomal instability in chromosome band 12p13: Multiple breaks leading to complex rearrangements including cytogenetically undetectable sub-clones
    • Sato Y, Kobayashi H, Suto Y, Olney HJ, Davis EM, Super HG, Espinosa R 3rd, Le Beau MM, Rowley JD. 2001. Chromosomal instability in chromosome band 12p13: Multiple breaks leading to complex rearrangements including cytogenetically undetectable sub-clones. Leukemia 15:1193-1202.
    • (2001) Leukemia , vol.15 , pp. 1193-1202
    • Sato, Y.1    Kobayashi, H.2    Suto, Y.3    Olney, H.J.4    Davis, E.M.5    Super, H.G.6    Espinosa R. III7    Le Beau, M.M.8    Rowley, J.D.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.