메뉴 건너뛰기




Volumn 129, Issue 2, 2004, Pages 176-179

A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy

Author keywords

Mosaicism; Prader Willi syndrome; Ring chromosome; Supernumerary marker chromosome; Triplication of PWS; Uniparental disomy

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MARKER CHROMOSOME; PEDIGREE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RING CHROMOSOME; SUPERNUMERARY CHROMOSOME;

EID: 4344693138     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20621     Document Type: Article
Times cited : (11)

References (25)
  • 4
    • 0035829969 scopus 로고    scopus 로고
    • The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
    • Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Acobs P. 2001. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet 105:675-685.
    • (2001) Am J Med Genet , vol.105 , pp. 675-685
    • Bolton, P.F.1    Dennis, N.R.2    Browne, C.E.3    Thomas, N.S.4    Veltman, M.W.5    Thompson, R.J.6    Acobs, P.7
  • 5
    • 0027994534 scopus 로고
    • Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
    • Cheng SD, Spinner NB, Zackai EH, Knoll JH. 1994. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759.
    • (1994) Am J Hum Genet , vol.55 , pp. 753-759
    • Cheng, S.D.1    Spinner, N.B.2    Zackai, E.H.3    Knoll, J.H.4
  • 8
    • 0036196707 scopus 로고    scopus 로고
    • Organisation of the pericentromeric region of chromosome 15: At least four partial gene copies are amplified in patients with a proximal duplication of 15q
    • Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RSK, Christian SL, Ledbetter DH. 2002. Organisation of the pericentromeric region of chromosome 15: At least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet 39:170-177.
    • (2002) J Med Genet , vol.39 , pp. 170-177
    • Fantes, J.A.1    Mewborn, S.K.2    Lese, C.M.3    Hedrick, J.4    Brown, R.L.5    Dyomin, V.6    Chaganti, R.S.K.7    Christian, S.L.8    Ledbetter, D.H.9
  • 9
    • 0035515362 scopus 로고    scopus 로고
    • The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
    • Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. 2001. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:E92.
    • (2001) Pediatrics , vol.108
    • Gunay-Aygun, M.1    Schwartz, S.2    Heeger, S.3    O'Riordan, M.A.4    Cassidy, S.B.5
  • 10
    • 0027476507 scopus 로고
    • Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview
    • Knoll JH, Wagstaff J, Lalande M. 1993. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview. Am J Med Genet 46:2-6.
    • (1993) Am J Med Genet , vol.46 , pp. 2-6
    • Knoll, J.H.1    Wagstaff, J.2    Lalande, M.3
  • 11
    • 0036796014 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence?
    • Kozot D. 2000. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence? J Med Genet 39:775-778.
    • (2000) J Med Genet , vol.39 , pp. 775-778
    • Kozot, D.1
  • 12
    • 0028205957 scopus 로고
    • Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/ Angelman syndrome region: Clinical implications
    • Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S. 1994. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/ Angelman syndrome region: Clinical implications. Am J Hum Genet 54:748-756.
    • (1994) Am J Hum Genet , vol.54 , pp. 748-756
    • Leana-Cox, J.1    Jenkins, L.2    Palmer, C.G.3    Plattner, R.4    Sheppard, L.5    Flejter, W.L.6    Zackowski, J.7    Tsien, F.8    Schwartz, S.9
  • 14
    • 0031920916 scopus 로고    scopus 로고
    • Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
    • Long F, Duckett DP, Billam LJ, Williams DK, Crolla JA. 1998. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet 35:425-428.
    • (1998) J Med Genet , vol.35 , pp. 425-428
    • Long, F.1    Duckett, D.P.2    Billam, L.J.3    Williams, D.K.4    Crolla, J.A.5
  • 15
    • 0028275961 scopus 로고
    • Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome
    • Luke S, Verma RS, Giridharan R, Conte RA, Macera MJ. 1994. Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. Am J Med Genet 51:232-233.
    • (1994) Am J Med Genet , vol.51 , pp. 232-233
    • Luke, S.1    Verma, R.S.2    Giridharan, R.3    Conte, R.A.4    Macera, M.J.5
  • 16
    • 0036483592 scopus 로고    scopus 로고
    • A patient with a supernumerary marker chromosome (15). Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction
    • Roberts S, Maggouta F, Thompson R, Price S, Thomas S. 2002a. A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction. J Med Genet 39:e9.
    • (2002) J Med Genet , vol.39
    • Roberts, S.1    Maggouta, F.2    Thompson, R.3    Price, S.4    Thomas, S.5
  • 21
    • 0024557264 scopus 로고
    • Classical Prader-Willi syndrome with trisomy 15(pter-q12) plus de novo variant 15p11
    • Smith A, Den Dulk G, Lipson A, Suter M. 1989. Classical Prader-Willi syndrome with trisomy 15(pter-q12) plus de novo variant 15p11. Ann Genet 32:39-42.
    • (1989) Ann Genet , vol.32 , pp. 39-42
    • Smith, A.1    Den Dulk, G.2    Lipson, A.3    Suter, M.4
  • 22
    • 0034163070 scopus 로고    scopus 로고
    • Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15
    • Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T. 2000. Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15. Seizure 9:145-150.
    • (2000) Seizure , vol.9 , pp. 145-150
    • Takeda, Y.1    Baba, A.2    Nakamura, F.3    Ito, M.4    Honma, H.5    Koyama, T.6
  • 23
    • 0032708221 scopus 로고    scopus 로고
    • Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
    • Thomas NS, Browne CE, Oley C, Healey S, Crolla JA. 1999. Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Hum Genet 105:384-387.
    • (1999) Hum Genet , vol.105 , pp. 384-387
    • Thomas, N.S.1    Browne, C.E.2    Oley, C.3    Healey, S.4    Crolla, J.A.5
  • 25
    • 0028128302 scopus 로고
    • Inv dup(15) supernumerary marker chromosomes
    • Webb T. 1994. Inv dup(15) supernumerary marker chromosomes. J Med Genet 31:585-594.
    • (1994) J Med Genet , vol.31 , pp. 585-594
    • Webb, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.