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Volumn 23, Issue 4, 2006, Pages 378-381

Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 12P; CHROMOSOME ANALYSIS; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MENTAL DEFICIENCY; MOSAICISM; PALLISTER KILLIAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY; SKIN PIGMENTATION; TETRASOMY;

EID: 33746864001     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2006.00250.x     Document Type: Article
Times cited : (12)

References (10)
  • 1
    • 0030997063 scopus 로고    scopus 로고
    • Clinical variability of tetrasomy 12p
    • Schaefer GB, Jochar A, Muneer R et al. Clinical variability of tetrasomy 12p. Clin Genet 1997;51:102-108.
    • (1997) Clin Genet , vol.51 , pp. 102-108
    • Schaefer, G.B.1    Jochar, A.2    Muneer, R.3
  • 2
    • 12244271506 scopus 로고    scopus 로고
    • Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome
    • Genevieve D, Cormier-Daire V, Sanlaville D et al. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Am J Med Genet 2003;116A:90-93.
    • (2003) Am J Med Genet , vol.116 A , pp. 90-93
    • Genevieve, D.1    Cormier-Daire, V.2    Sanlaville, D.3
  • 3
    • 0023188243 scopus 로고
    • Pallister-Killian syndrome: Cytogenetic and molecular studies
    • Peltomäki P, Knuutila S, Ritvanen A et al. Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet 1987;31:399-405.
    • (1987) Clin Genet , vol.31 , pp. 399-405
    • Peltomäki, P.1    Knuutila, S.2    Ritvanen, A.3
  • 4
    • 0037329723 scopus 로고    scopus 로고
    • Tetrasomy 12p - Unusual presentation in CVS
    • Dong L, Falk RE, Williams J et al. Tetrasomy 12p - unusual presentation in CVS. Prenat Diagn 2003;23:101-103.
    • (2003) Prenat Diagn , vol.23 , pp. 101-103
    • Dong, L.1    Falk, R.E.2    Williams, J.3
  • 5
    • 0036294797 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: Difficulties of prenatal diagnosis
    • Doray B, Girard-Lemaire F, Gasser B et al. Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 2002;22:470-477.
    • (2002) Prenat Diagn , vol.22 , pp. 470-477
    • Doray, B.1    Girard-Lemaire, F.2    Gasser, B.3
  • 6
    • 0033053010 scopus 로고    scopus 로고
    • High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes
    • Chudoba I, Plesch A, Lörch T et al. High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes. Cytogenet Cell Genet 1999;84:156-160.
    • (1999) Cytogenet Cell Genet , vol.84 , pp. 156-160
    • Chudoba, I.1    Plesch, A.2    Lörch, T.3
  • 7
    • 0031049563 scopus 로고    scopus 로고
    • Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome
    • Cormier-Daire V, Le Merrer M, Gigarel N et al. Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am J Med Genet 1997;69:166-168.
    • (1997) Am J Med Genet , vol.69 , pp. 166-168
    • Cormier-Daire, V.1    Le Merrer, M.2    Gigarel, N.3
  • 8
    • 0030888464 scopus 로고    scopus 로고
    • The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome
    • Mowery-Rushton PA, Stadler MP,Kochmar SJ et al. The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome. Prenat Diagn 1997;17:255-265.
    • (1997) Prenat Diagn , vol.17 , pp. 255-265
    • Mowery-Rushton, P.A.1    Stadler, M.P.2    Kochmar, S.J.3
  • 9
    • 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 et al. 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 1997;72:106-110.
    • (1997) Am J Med Genet , vol.72 , pp. 106-110
    • Schubert, R.1    Viersbach, R.2    Eggermann, T.3
  • 10
    • 0344033748 scopus 로고    scopus 로고
    • Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype
    • Leube B, Majewski F, Gebauer J et al. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am J Med Genet 2003;123A:296-300.
    • (2003) Am J Med Genet , vol.123 A , pp. 296-300
    • Leube, B.1    Majewski, F.2    Gebauer, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.