메뉴 건너뛰기




Volumn 53, Issue 3, 2005, Pages 361-364

Pallister-Killian syndrome: Rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytoqenetic diagnostics

Author keywords

Mosaic tetrasomy 12p; Pallister Killian syndrome; Supernumerary isochromosome

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; AMNION FLUID ANALYSIS; CASE REPORT; CELL CULTURE; CELL GROWTH; CHROMOSOME 12P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CONFERENCE PAPER; CYTOGENETICS; FEMALE; FETUS; HUMAN; HUMAN CELL; ISOCHROMOSOME; KARYOTYPE; PALLISTER KILLIAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 20044372720     PISSN: 00221554     EISSN: None     Source Type: Journal    
DOI: 10.1369/jhc.4A6402.2005     Document Type: Conference Paper
Times cited : (21)

References (17)
  • 1
    • 0031786137 scopus 로고    scopus 로고
    • Pallister-Killian syndrome [i(12p)]: First prenatal diagnosis using cordocentesis in the second trimester confirming by in situ hybridization
    • Chiesa J, Hoffet M, Rousseau O (1998) Pallister-Killian syndrome [i(12p)]: first prenatal diagnosis using cordocentesis in the second trimester confirming by in situ hybridization. Clin Genet 54: 294-302
    • (1998) Clin Genet , vol.54 , pp. 294-302
    • Chiesa, J.1    Hoffet, M.2    Rousseau, O.3
  • 5
    • 0034887978 scopus 로고    scopus 로고
    • Partial tetrasomy 12pter-12pl2.3 in a girl with Pallister-Killian syndrome: Extraordinary findings of an analphoid, inverted duplicated marker
    • Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schoning M, et al. (2001) Partial tetrasomy 12pter-12pl2.3 in a girl with Pallister-Killian syndrome: extraordinary findings of an analphoid, inverted duplicated marker. Eur J Hum Genet 8:572-576
    • (2001) Eur J Hum Genet , vol.8 , pp. 572-576
    • Dufke, A.1    Walczak, C.2    Liehr, T.3    Starke, H.4    Trifonov, V.5    Rubtsov, N.6    Schoning, M.7
  • 7
    • 0021798876 scopus 로고
    • The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome
    • Hunter AGW, Clifford B, Cox DM (1985) The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet 28:47-53
    • (1985) Clin Genet , vol.28 , pp. 47-53
    • Hunter, A.G.W.1    Clifford, B.2    Cox, D.M.3
  • 8
    • 0003802608 scopus 로고
    • Case report 72: Mental retardation, unusual facial appearance, abnormal hair
    • Killian W, Teschler-Nicola M (1981) Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident 7:6-7
    • (1981) Synd Ident , vol.7 , pp. 6-7
    • Killian, W.1    Teschler-Nicola, M.2
  • 9
    • 0344033748 scopus 로고    scopus 로고
    • Clinical, cytogenetic and molecular observation in a patient with Pallister-Killian-syndrome with an unusual karyotype
    • Leube B, Majewski F, Gebauer J, Royer-Pokora B (2003) Clinical, cytogenetic and molecular observation in a patient with Pallister-Killian- syndrome with an unusual karyotype. Am J Med Genet 123A:296-300
    • (2003) Am J Med Genet , vol.123 A , pp. 296-300
    • Leube, B.1    Majewski, F.2    Gebauer, J.3    Royer-Pokora, B.4
  • 13
    • 0022726038 scopus 로고
    • On the origin of extra isochromosomes
    • Rivera H, Rivas F, Cantu JM (1986) On the origin of extra isochromosomes. Clin Genet 29:540-541
    • (1986) Clin Genet , vol.29 , pp. 540-541
    • Rivera, H.1    Rivas, F.2    Cantu, J.M.3
  • 14
    • 0026087355 scopus 로고
    • Tetrasomy 12p (Pallister-Killian syndrome)
    • Schinzel A (1991) Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125
    • (1991) J Med Genet , vol.28 , pp. 122-125
    • Schinzel, A.1
  • 15
    • 0030982483 scopus 로고    scopus 로고
    • Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection
    • Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G (1997) Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection. Am J Med Genet 72:106-110
    • (1997) Am J Med Genet , vol.72 , pp. 106-110
    • Schubert, R.1    Viersbach, R.2    Eggermann, T.3    Hansmann, M.4    Schwanitz, G.5
  • 16
    • 0023369619 scopus 로고
    • Parental age, and how extra isochromosomes (secondary trisomy) arise
    • Van Dyke DL, Babu VR, Weiss L (1987) Parental age, and how extra isochromosomes (secondary trisomy) arise. Clin Genet 32:75-80
    • (1987) Clin Genet , vol.32 , pp. 75-80
    • Van Dyke, D.L.1    Babu, V.R.2    Weiss, L.3
  • 17
    • 0023250506 scopus 로고
    • Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the Pallister-Mosaic syndrome cases
    • Warburton D, Anyane-Yeboa K, Francke U (1987) Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the Pallister-Mosaic syndrome cases. Am J Med Genet 27:275-283
    • (1987) Am J Med Genet , vol.27 , pp. 275-283
    • Warburton, D.1    Anyane-Yeboa, K.2    Francke, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.