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Volumn 54, Issue 1, 1998, Pages 60-64

A case of Prader-Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

Author keywords

Chromosome 15; Deletion; Prader Willi syndrome; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 11; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TELOMERE;

EID: 3543045018     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03695.x     Document Type: Article
Times cited : (9)

References (10)
  • 1
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    • New insights reveal complex mechanisms involved in genomic imprinting
    • Nicholls RD. New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994: 54: 733-740.
    • (1994) Am J Hum Genet , vol.54 , pp. 733-740
    • Nicholls, R.D.1
  • 4
    • 0029127755 scopus 로고
    • Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndrome
    • Jauch A, Robson L, Smith A. Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndrome. Hum Genet 1995: 96: 345-349.
    • (1995) Hum Genet , vol.96 , pp. 345-349
    • Jauch, A.1    Robson, L.2    Smith, A.3
  • 5
    • 0028210810 scopus 로고
    • Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
    • Smith A, Deng Z-M, Beran R, Woodage T, Trent JR. Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. Hum Genet 1994: 93: 471-473.
    • (1994) Hum Genet , vol.93 , pp. 471-473
    • Smith, A.1    Deng, Z.-M.2    Beran, R.3    Woodage, T.4    Trent, J.R.5
  • 7
    • 0026771543 scopus 로고
    • The presence of interstitial telomeric sequences in constitutional chromosome abnormalities
    • Park VM, Gustashaw KM, Wathen TM. The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am J Hum Genet 1992: 50: 914-923.
    • (1992) Am J Hum Genet , vol.50 , pp. 914-923
    • Park, V.M.1    Gustashaw, K.M.2    Wathen, T.M.3
  • 10
    • 0024999897 scopus 로고
    • Nonreciprocal and jumping translocations of 15ql → qter in Prader-Willi syndrome
    • Rivera H, Zuffardi O, Gargantini L. Nonreciprocal and jumping translocations of 15ql → qter in Prader-Willi syndrome. Am J Med Genet 1990: 37: 311-317.
    • (1990) Am J Med Genet , vol.37 , pp. 311-317
    • Rivera, H.1    Zuffardi, O.2    Gargantini, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.