메뉴 건너뛰기




Volumn 92, Issue 4, 2000, Pages 229-236

Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males

Author keywords

Fragile X syndrome; Physical characteristics; Prepubertal boys

Indexed keywords

ARTICLE; CALLUS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EAR; EAR INFECTION; FACE; FAMILY HISTORY; FRAGILE X SYNDROME; GAZE; HEAD CIRCUMFERENCE; HUMAN; HYPERACTIVITY; IMPULSIVENESS; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; TENDON REFLEX;

EID: 0034608670     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000605)92:4<229::AID-AJMG1>3.0.CO;2-K     Document Type: Article
Times cited : (67)

References (42)
  • 3
    • 0025968740 scopus 로고
    • Anthropometric comparison of mentally retarded males with and without the fragile X syndrome
    • Butler MG, Allen MG, Haynes JL, Singh DN, Watson MS, Breg WR. 1991a. Anthropometric comparison of mentally retarded males with and without the fragile X syndrome. Am J Med Genet 38:260-268.
    • (1991) Am J Med Genet , vol.38 , pp. 260-268
    • Butler, M.G.1    Allen, M.G.2    Haynes, J.L.3    Singh, D.N.4    Watson, M.S.5    Breg, W.R.6
  • 4
    • 0025782549 scopus 로고
    • A 15-item checklist for screening mentally retarded males for the fragile X syndrome
    • Butler MG, Mangrum T, Gupta R, Singh D. 1991b. A 15-item checklist for screening mentally retarded males for the fragile X syndrome. Clin Genet 39:347-354.
    • (1991) Clin Genet , vol.39 , pp. 347-354
    • Butler, M.G.1    Mangrum, T.2    Gupta, R.3    Singh, D.4
  • 5
    • 0342421701 scopus 로고
    • Anthropometric and craniofacial patterns in mentally retarded males with and without the fragile X syndrome
    • Hagerman RJ, McKenzie P, editors. Dillon, CO: Spectra Publishing Co.
    • Butler MG, Pratesi R, Watson MS, Breg WR, Singh DN. 1992. Anthropometric and craniofacial patterns in mentally retarded males with and without the fragile X syndrome. In: Hagerman RJ, McKenzie P, editors. 1992 International Fragile X Conference Proceedings. Dillon, CO: Spectra Publishing Co. p 37-49.
    • (1992) 1992 International Fragile X Conference Proceedings , pp. 37-49
    • Butler, M.G.1    Pratesi, R.2    Watson, M.S.3    Breg, W.R.4    Singh, D.N.5
  • 7
    • 0028328473 scopus 로고
    • When is a behavioral phenotype not a phenotype?
    • Einfeld SL, Hall W. 1994. When is a behavioral phenotype not a phenotype? Dev Med Child Neurol 36:463-470.
    • (1994) Dev Med Child Neurol , vol.36 , pp. 463-470
    • Einfeld, S.L.1    Hall, W.2
  • 9
    • 0342421699 scopus 로고
    • Overview of conference: The clinical phenotype and treatment
    • Hagerman RJ, McKenzie P, editors. Dillon, CO: Spectra Publishing Co.
    • Hagerman RJ. 1992. Overview of conference: the clinical phenotype and treatment. In: Hagerman RJ, McKenzie P, editors. 1992 International Fragile X Conference Proceedings. Dillon, CO: Spectra Publishing Co. p 13-24.
    • (1992) 1992 International Fragile X Conference Proceedings , pp. 13-24
    • Hagerman, R.J.1
  • 10
    • 0001966753 scopus 로고    scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Cronister AS, editors. Baltimore, MD: The Johns Hopkins University Press
    • Hagerman RJ. 1996. Physical and behavioral phenotype. In: Hagerman RJ, Cronister AS, editors. Fragile X syndrome: diagnosis, treatment and research (second edition). Baltimore, MD: The Johns Hopkins University Press. p 3-87.
    • (1996) Fragile X Syndrome: Diagnosis, Treatment and Research (Second Edition) , pp. 3-87
    • Hagerman, R.J.1
  • 16
    • 0023750333 scopus 로고
    • Early manifestations of the Martin-Bell syndrome based on a series of both sexes from infancy
    • Hockey A, Crowhurst J. 1988. Early manifestations of the Martin-Bell syndrome based on a series of both sexes from infancy. Am J Med Genet 30:61-71.
    • (1988) Am J Med Genet , vol.30 , pp. 61-71
    • Hockey, A.1    Crowhurst, J.2
  • 17
    • 0343291330 scopus 로고
    • Physical characteristics of young boys with fragile X syndrome
    • Hagerman RJ, McKenzie P, editors. Dillon, Co: Spectra Publishing Co.
    • Lachiewicz AM. 1992. Physical characteristics of young boys with fragile X syndrome. In: Hagerman RJ, McKenzie P, editors. 1992 International Fragile X Conference Proceedings. Dillon, Co: Spectra Publishing Co. p 29-36.
    • (1992) 1992 International Fragile X Conference Proceedings , pp. 29-36
    • Lachiewicz, A.M.1
  • 18
    • 0028260946 scopus 로고
    • Do young boys with fragile X syndrome have macroorchidism?
    • Lachiewicz AM, Dawson DV. 1994. Do young boys with fragile X syndrome have macroorchidism? Pediatrics 93:992-995.
    • (1994) Pediatrics , vol.93 , pp. 992-995
    • Lachiewicz, A.M.1    Dawson, D.V.2
  • 20
    • 0025976184 scopus 로고
    • Clinical screening score for the fragile X (Martin-Bell) syndrome
    • Laing S, Partington M, Robinson H, Turner G. 1991. Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet 38: 256-259.
    • (1991) Am J Med Genet , vol.38 , pp. 256-259
    • Laing, S.1    Partington, M.2    Robinson, H.3    Turner, G.4
  • 21
    • 0342421695 scopus 로고
    • Oculo-visual dysfunction in fragile X syndrome
    • Hagerman RJ, McKenzie P, editors. Dillon, CO: Spectra Publishing Co.
    • Maino DM, King RA. 1992. Oculo-visual dysfunction in fragile X syndrome. In: Hagerman RJ, McKenzie P, editors. 1992 International Fragile X Conference Proceedings. Dillon, CO: Spectra Publishing Co. p 71-78.
    • (1992) 1992 International Fragile X Conference Proceedings , pp. 71-78
    • Maino, D.M.1    King, R.A.2
  • 22
    • 0021329875 scopus 로고
    • An anthropometric study of males with the fragile X syndrome
    • Meryash DL, Cronk CE, Sachs B, Gerald PS. 1984. An anthropometric study of males with the fragile X syndrome. Am J Med Genet 17:159-174.
    • (1984) Am J Med Genet , vol.17 , pp. 159-174
    • Meryash, D.L.1    Cronk, C.E.2    Sachs, B.3    Gerald, P.S.4
  • 25
    • 0000655885 scopus 로고
    • An algorithm for finding the exact significance levels of rx c contingency tables
    • Pagano M, Halvorsen KT. 1981. An algorithm for finding the exact significance levels of rx c contingency tables. J Am Stat Assoc 76:931-934.
    • (1981) J Am Stat Assoc , vol.76 , pp. 931-934
    • Pagano, M.1    Halvorsen, K.T.2
  • 26
    • 0021329192 scopus 로고
    • The fragile X syndrome II: Preliminary data on growth and development in males
    • Partington MW. 1984. The fragile X syndrome II: preliminary data on growth and development in males. Am J Med Genet 17:175-194.
    • (1984) Am J Med Genet , vol.17 , pp. 175-194
    • Partington, M.W.1
  • 28
    • 0026649793 scopus 로고
    • Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children
    • Reiss AL, Freund L. 1992. Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children. Am J Med Genet 43:35-46.
    • (1992) Am J Med Genet , vol.43 , pp. 35-46
    • Reiss, A.L.1    Freund, L.2
  • 29
  • 32
  • 33
    • 0022595505 scopus 로고
    • Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes
    • Simpson NE. 1986. Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes. Am J Med Genet 23:171-178.
    • (1986) Am J Med Genet , vol.23 , pp. 171-178
    • Simpson, N.E.1
  • 34
    • 0021364412 scopus 로고
    • Fragile-X syndrome III: Dermatoglyphic studies in males
    • Simpson NE, Newman BJ, Partington MW. 1984. Fragile-X syndrome III: dermatoglyphic studies in males. Am J Med Genet 17:195-207.
    • (1984) Am J Med Genet , vol.17 , pp. 195-207
    • Simpson, N.E.1    Newman, B.J.2    Partington, M.W.3
  • 35
    • 0343291320 scopus 로고
    • Fragile X syndrome VI. A subjective assessment of the facial features in blacks and whites
    • Stevenson RE, Prouty LA. 1988. Fragile X syndrome VI. A subjective assessment of the facial features in blacks and whites. Proceedings of the Greenwood Genetic Center 7:103-108.
    • (1988) Proceedings of the Greenwood Genetic Center , vol.7 , pp. 103-108
    • Stevenson, R.E.1    Prouty, L.A.2
  • 36
    • 0023218125 scopus 로고
    • Ophthalmologic findings in the fragile X syndrome
    • Storm RL, PeBenito R, Ferretti C. 1987. Ophthalmologic findings in the fragile X syndrome. Arch Ophthal 105:1099-1102.
    • (1987) Arch Ophthal , vol.105 , pp. 1099-1102
    • Storm, R.L.1    PeBenito, R.2    Ferretti, C.3
  • 37
    • 0027446503 scopus 로고
    • Molecular genetic advances in fragile X syndrome
    • Tarleton, JC, Saul RA. 1993. Molecular genetic advances in fragile X syndrome. J Pediatr 122:169-185.
    • (1993) J Pediatr , vol.122 , pp. 169-185
    • Tarleton, J.C.1    Saul, R.A.2
  • 38
    • 0022344539 scopus 로고
    • Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy?
    • Thake A, Todd J, Bundey S, Webb T. 1985. Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy? Arch Dis Child 60:1001-1007.
    • (1985) Arch Dis Child , vol.60 , pp. 1001-1007
    • Thake, A.1    Todd, J.2    Bundey, S.3    Webb, T.4
  • 41
    • 0025968567 scopus 로고
    • Abnormal pattern detected in fragile X patients by pulsed-field gel electrophoresis
    • Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL. 1991. Abnormal pattern detected in fragile X patients by pulsed-field gel electrophoresis. Nature 349:624-626.
    • (1991) Nature , vol.349 , pp. 624-626
    • Vincent, A.1    Heitz, D.2    Petit, C.3    Kretz, C.4    Oberle, I.5    Mandel, J.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.