메뉴 건너뛰기




Volumn 124 A, Issue 2, 2004, Pages 213-215

Fragile X and Mosaic 45,X/46,XY Mixed Gonadal Dysgenesis in a Girl with Ambiguous Genitalia [1]

Author keywords

[No Author keywords available]

Indexed keywords

AMBIGUOUS GENITALIA; BIRTH WEIGHT; CASE REPORT; CHROMOSOME ABERRATION; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; FRAGILE X SYNDROME; GENETIC ANALYSIS; GENITAL MALFORMATION; GONADAL DYSGENESIS; HISTOLOGY; HUMAN; HUMAN TISSUE; INFANT; LAPAROSCOPIC SURGERY; LETTER; MOTOR DEVELOPMENT; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SYMPTOM; VAGINAL DELIVERY;

EID: 0346157028     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (3)

References (16)
  • 4
    • 0023234151 scopus 로고
    • A case of mosaicism with fragile-X and XXY components
    • Deb S, Cowie V, Timberlake C. 1987. A case of mosaicism with fragile-X and XXY components. Br J Psychiatry 150:700-702.
    • (1987) Br J Psychiatry , vol.150 , pp. 700-702
    • Deb, S.1    Cowie, V.2    Timberlake, C.3
  • 5
    • 0023695770 scopus 로고
    • The concurrence of Klinefelter syndrome and fragile X syndrome
    • Fryns J, Van dBH. 1988. The concurrence of Klinefelter syndrome and fragile X syndrome. Am J Med Genet 30:109-113.
    • (1988) Am J Med Genet , vol.30 , pp. 109-113
    • Fryns, J.1    Van, D.B.H.2
  • 7
    • 0034849367 scopus 로고    scopus 로고
    • The female and the fragile X reviewed
    • Kenneson A, Warren S. 2001. The female and the fragile X reviewed. Semin Reprod Med 19:159-165.
    • (2001) Semin Reprod Med , vol.19 , pp. 159-165
    • Kenneson, A.1    Warren, S.2
  • 8
    • 0023196816 scopus 로고
    • 45,X/46,XY mosaicism. A clinical review and report of ten cases
    • Knudtzon J, Aarskog D. 1987. 45,X/46,XY mosaicism. A clinical review and report of ten cases. Eur J Pediatr 146:266-271.
    • (1987) Eur J Pediatr , vol.146 , pp. 266-271
    • Knudtzon, J.1    Aarskog, D.2
  • 9
    • 0026019556 scopus 로고
    • Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome
    • Kupke KG, Soreng AL, Muller U. 1991. Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome. Am J Med Genet 38:440-444.
    • (1991) Am J Med Genet , vol.38 , pp. 440-444
    • Kupke, K.G.1    Soreng, A.L.2    Muller, U.3
  • 10
    • 0029999485 scopus 로고    scopus 로고
    • The frequency of chromosomal abnormalities in patients referred for fragile X analysis
    • Mark H, Bier J, Scola P. 1996. The frequency of chromosomal abnormalities in patients referred for fragile X analysis. Ann Clin Lab Sci 26:323-328.
    • (1996) Ann Clin Lab Sci , vol.26 , pp. 323-328
    • Mark, H.1    Bier, J.2    Scola, P.3
  • 13
    • 0028341336 scopus 로고
    • Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect
    • Shapiro L, Simensen R, Wilmot P, Fisch G, Vibert B, Fenwick R, Tarleton J, Phelan M. 1994. Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect. Am J Med Genet 51:507-508.
    • (1994) Am J Med Genet , vol.51 , pp. 507-508
    • Shapiro, L.1    Simensen, R.2    Wilmot, P.3    Fisch, G.4    Vibert, B.5    Fenwick, R.6    Tarleton, J.7    Phelan, M.8
  • 14
    • 0347953683 scopus 로고
    • Hermaphroditism with "atypical" or "mixed" gonadal dysgenesis
    • Sohval A. 1964. Hermaphroditism with "atypical" or "mixed" gonadal dysgenesis. Am J Med 36:281-292.
    • (1964) Am J Med , vol.36 , pp. 281-292
    • Sohval, A.1
  • 15
    • 0033751977 scopus 로고    scopus 로고
    • Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus
    • Wilkin H, Tuohy J, Theewis W. 2000. Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus. Prenat Diagn 20:854-855.
    • (2000) Prenat Diagn , vol.20 , pp. 854-855
    • Wilkin, H.1    Tuohy, J.2    Theewis, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.