메뉴 건너뛰기




Volumn 63, Issue 1, 1996, Pages 243-249

Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome"

Author keywords

Acrocallosal syndrome; Chromosome 12; FISH; Hypertrophic infant; MA MR syndrome; Macrocephaly; Trisomy 12p

Indexed keywords

DNA;

EID: 0029931942     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO;2-L     Document Type: Article
Times cited : (56)

References (26)
  • 1
    • 0017704614 scopus 로고
    • Trisomy 12p, a clinically recognizable syndrome
    • Bergsma D, Lowry, RB (eds): "New Syndromes " New York: Alan R. Liss, Inc. for The National Foundation - March of Dimes
    • Alfi OS, Lange M (1977): Trisomy 12p, a clinically recognizable syndrome. In Bergsma D, Lowry, RB (eds): "New Syndromes " New York: Alan R. Liss, Inc. for The National Foundation - March of Dimes, BD:OAS XIII(3B)231-232.
    • (1977) BD:OAS , vol.13 , Issue.3 B , pp. 231-232
    • Alfi, O.S.1    Lange, M.2
  • 4
    • 0017342392 scopus 로고
    • Partial trisomy 12p due to t(12;21)pat Translocation
    • Biederman B, Bowen P, Robertson C, Schiff D (1977): Partial trisomy 12p due to t(12;21)pat Translocation. Hum Genet 36:35-41
    • (1977) Hum Genet , vol.36 , pp. 35-41
    • Biederman, B.1    Bowen, P.2    Robertson, C.3    Schiff, D.4
  • 6
    • 0018857601 scopus 로고
    • Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2
    • Dallapiccola B, Brinchi V, Magnani M, Dacha M (1980): Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2. Ann Genet 23:111-113.
    • (1980) Ann Genet , vol.23 , pp. 111-113
    • Dallapiccola, B.1    Brinchi, V.2    Magnani, M.3    Dacha, M.4
  • 7
    • 0017822792 scopus 로고
    • Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring
    • Hansteen IL, Schirmer L, Hestetun S (1978): Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring. Clin Genet 13:339-349.
    • (1978) Clin Genet , vol.13 , pp. 339-349
    • Hansteen, I.L.1    Schirmer, L.2    Hestetun, S.3
  • 8
    • 0021153338 scopus 로고
    • Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution banding
    • Ikeuchi T (1984): Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution banding. Cytogenet Cell Genet 38:56-61.
    • (1984) Cytogenet Cell Genet , vol.38 , pp. 56-61
    • Ikeuchi, T.1
  • 10
    • 0018363918 scopus 로고
    • Trisomy 12p syndrome: De novo occurrence of moasaic trisomy 12p in a mentally retarded boy
    • Kondo I, Hamaguchi H, Haneda T (1979). Trisomy 12p syndrome: De novo occurrence of moasaic trisomy 12p in a mentally retarded boy. Hum Genet 46:135-140.
    • (1979) Hum Genet , vol.46 , pp. 135-140
    • Kondo, I.1    Hamaguchi, H.2    Haneda, T.3
  • 11
    • 0027365064 scopus 로고
    • Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries
    • Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene CL, Raffel LJ, Sullivan B, Schwartz S (1993): Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. Am J Hum Genet 52: 1067-1073.
    • (1993) Am J Hum Genet , vol.52 , pp. 1067-1073
    • Leana-Cox, J.1    Levin, S.2    Surana, R.3    Wulfsberg, E.4    Keene, C.L.5    Raffel, L.J.6    Sullivan, B.7    Schwartz, S.8
  • 12
    • 0023692635 scopus 로고
    • Delineation of individual human chromosomes in methaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
    • Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC (1988): Delineation of individual human chromosomes in methaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80:224-234.
    • (1988) Hum Genet , vol.80 , pp. 224-234
    • Lichter, P.1    Cremer, T.2    Borden, J.3    Manuelidis, L.4    Ward, D.C.5
  • 13
    • 0018734368 scopus 로고
    • Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generations
    • Parslow M, Chambers D, Drummond M, Hunter W (1979): Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generations Hum Genet 47.253-260.
    • (1979) Hum Genet , vol.47 , pp. 253-260
    • Parslow, M.1    Chambers, D.2    Drummond, M.3    Hunter, W.4
  • 14
    • 0026534950 scopus 로고
    • Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11 2-p13.3
    • Pfeiffer RA, Legat G, Trautmann U (1992): Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11 2-p13.3. Ann Genet 35:41-46.
    • (1992) Ann Genet , vol.35 , pp. 41-46
    • Pfeiffer, R.A.1    Legat, G.2    Trautmann, U.3
  • 18
    • 0023192019 scopus 로고
    • Centric fission, centromere-telomere fusion and isochromosome formation: A possible origin of a de novo 12p trisomy
    • Rivera H, Garcia-Esquivel L, Jimenez-Sainz M, Vaca G,Ibarra B, Cantú JM (1987): Centric fission, centromere-telomere fusion and isochromosome formation: A possible origin of a de novo 12p trisomy. Clin Genet 31:393-398.
    • (1987) Clin Genet , vol.31 , pp. 393-398
    • Rivera, H.1    Garcia-Esquivel, L.2    Jimenez-Sainz, M.3    Vaca, G.4    Ibarra, B.5    Cantú, J.M.6
  • 20
    • 0018123174 scopus 로고
    • Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p
    • Serville F, Junien C, Kaplan JC, Gachet M, Cadoux J, Broustet A (1978): Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p. Hum Genet 45:63-69.
    • (1978) Hum Genet , vol.45 , pp. 63-69
    • Serville, F.1    Junien, C.2    Kaplan, J.C.3    Gachet, M.4    Cadoux, J.5    Broustet, A.6
  • 24
    • 0018223642 scopus 로고
    • Trisomy 12p due to an adjacent 1 segregation of a maternal reciprocal translocation t(12;18)(p11;q23)
    • Tenconi R, Giorgi PL, Tarantino E, Formica A (1978): Trisomy 12p due to an adjacent 1 segregation of a maternal reciprocal translocation t(12;18)(p11;q23). Ann Genet 21:229-233.
    • (1978) Ann Genet , vol.21 , pp. 229-233
    • Tenconi, R.1    Giorgi, P.L.2    Tarantino, E.3    Formica, A.4
  • 26
    • 0015579613 scopus 로고
    • Identification of partial 12 trisomy by quinacrine fluorescence
    • Uchida IA, Lin CC (1973): Identification of partial 12 trisomy by quinacrine fluorescence. J Pediatr 82-269-272.
    • (1973) J Pediatr , vol.82 , pp. 269-272
    • Uchida, I.A.1    Lin, C.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.