메뉴 건너뛰기




Volumn 65, Issue 2, 1996, Pages 124-127

The Wolf-Hirschhorn Syndrome in Adulthood: Evaluation of a 24-Year-Old Man with a rec(4) Chromosome

Author keywords

Asymmetric cerebral atrophy; Hemiplegia; Maternal pericentric inversion; Profound mental retardation

Indexed keywords

CANIS;

EID: 2742558639     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<124::AID-AJMG8>3.0.CO;2-S     Document Type: Review
Times cited : (13)

References (14)
  • 3
    • 0027398236 scopus 로고
    • Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome
    • Estabrooks LL, Rao KW, Korf B (1993): Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome. Am J Med Genet 45:97-100.
    • (1993) Am J Med Genet , vol.45 , pp. 97-100
    • Estabrooks, L.L.1    Rao, K.W.2    Korf, B.3
  • 4
    • 0025169780 scopus 로고
    • Growth retardation in Wolf-Hirschhorn syndrome
    • Fujimoto A, Wilson MG (1990): Growth retardation in Wolf-Hirschhorn syndrome. Hum Genet 84:296-297.
    • (1990) Hum Genet , vol.84 , pp. 296-297
    • Fujimoto, A.1    Wilson, M.G.2
  • 5
    • 0026761697 scopus 로고
    • Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome
    • Gandelman KY, Gibson L, Meyn MS, Yang-Feng TL (1992): Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Am J Hum Genet 51:571-578.
    • (1992) Am J Hum Genet , vol.51 , pp. 571-578
    • Gandelman, K.Y.1    Gibson, L.2    Meyn, M.S.3    Yang-Feng, T.L.4
  • 6
    • 0026777774 scopus 로고
    • A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome dentified by allele loss and fluorescent in situ hybridisation
    • Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J (1992): A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome dentified by allele loss and fluorescent in situ hybridisation. J Med Genet 29:451-454.
    • (1992) J Med Genet , vol.29 , pp. 451-454
    • Goodship, J.1    Curtis, A.2    Cross, I.3    Brown, J.4    Emslie, J.5    Wolstenholme, J.6    Bhattacharya, S.7    Burn, J.8
  • 7
    • 0027492498 scopus 로고
    • Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred
    • Hirsch B, Baldinger S (1993): Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred. Am J Med Genet 45:5-8.
    • (1993) Am J Med Genet , vol.45 , pp. 5-8
    • Hirsch, B.1    Baldinger, S.2
  • 10
    • 0029642832 scopus 로고
    • Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome
    • Opitz JM (1995): Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome. Am J Med Genet 55:459-461.
    • (1995) Am J Med Genet , vol.55 , pp. 459-461
    • Opitz, J.M.1
  • 11
    • 0027509686 scopus 로고
    • Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome
    • Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng ZM, Woodage T, Trent RJ (1993): Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome. Clin Genet 43:5-8.
    • (1993) Clin Genet , vol.43 , pp. 5-8
    • Smith, A.1    Robson, L.2    Neumann, A.3    Mulcahy, M.4    Chabros, V.5    Deng, Z.M.6    Woodage, T.7    Trent, R.J.8
  • 12
    • 0028919423 scopus 로고
    • Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome
    • Wheeler PG, Weaver DD, Palmer CG (1995): Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome Am J Med Genet 55:462-465
    • (1995) Am J Med Genet , vol.55 , pp. 462-465
    • Wheeler, P.G.1    Weaver, D.D.2    Palmer, C.G.3
  • 13
    • 0019801687 scopus 로고
    • Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]
    • Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P (1981): Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]. Hum Genet 59:297-307.
    • (1981) Hum Genet , vol.59 , pp. 297-307
    • Wilson, M.G.1    Towner, J.W.2    Coffin, G.S.3    Ebbin, A.J.4    Siris, E.5    Brager, P.6
  • 14
    • 0029005848 scopus 로고
    • Further contribution to the description of phenotypes associated with partial 4q duplication
    • Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G (1995): Further contribution to the description of phenotypes associated with partial 4q duplication. Am J Med Genet 57:69-73.
    • (1995) Am J Med Genet , vol.57 , pp. 69-73
    • Zollino, M.1    Zampino, G.2    Torrioli, G.3    Pomponi, M.G.4    Neri, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.