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Volumn 35, Issue 6, 1998, Pages 519-524

Three patients with a 45,X/46,X,psu dic(Xp) karyotype

Author keywords

Psu dic(Xp); Turner syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CELL LINE; CENTROMERE; CHROMOSOME DUPLICATION; CHROMOSOME XP; CLINICAL FEATURE; CYTOGENETICS; FEMALE; GENOTYPE; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; KARYOTYPE 45,X; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; STRUCTURAL CHROMOSOME ABERRATION; TURNER SYNDROME;

EID: 0031745528     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.6.519     Document Type: Article
Times cited : (19)

References (12)
  • 1
    • 0020634258 scopus 로고
    • The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
    • Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-7.
    • (1983) Hum Genet , vol.64 , pp. 24-27
    • Hook, E.B.1    Warburton, D.2
  • 2
    • 0031428584 scopus 로고    scopus 로고
    • Turner syndrome: A cytogenetic and molecular study
    • Jacobs P, Dalton P, James R, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997;61: 471-83.
    • (1997) Ann Hum Genet , vol.61 , pp. 471-483
    • Jacobs, P.1    Dalton, P.2    James, R.3
  • 3
    • 0029656085 scopus 로고    scopus 로고
    • Molecular definition of breakpoints associated with human Xq isochromosomes: Implications for mechanisms of formation
    • Wolff DJ, Miller AP, Vandyke DL, Schwartz S, Willard HF. Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet 1996;58:154-61.
    • (1996) Am J Hum Genet , vol.58 , pp. 154-161
    • Wolff, D.J.1    Miller, A.P.2    Vandyke, D.L.3    Schwartz, S.4    Willard, H.F.5
  • 4
    • 0016006458 scopus 로고
    • Apparently isodicentric but functionally monocentric X chromosome in man
    • Therman E, Sarto CE, Patau K. Apparently isodicentric but functionally monocentric X chromosome in man. Am J Hum Genet 1974;26:83-92.
    • (1974) Am J Hum Genet , vol.26 , pp. 83-92
    • Therman, E.1    Sarto, C.E.2    Patau, K.3
  • 5
    • 0030030185 scopus 로고    scopus 로고
    • Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter→Xq13
    • Jalal SM, Dahl R, Erickson L, Ziommerman D, Lindor N. Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter→Xq13. J Med Genet 1996; 33:237-9.
    • (1996) J Med Genet , vol.33 , pp. 237-239
    • Jalal, S.M.1    Dahl, R.2    Erickson, L.3    Ziommerman, D.4    Lindor, N.5
  • 6
    • 0025743674 scopus 로고
    • Isodicentric X-chromosome in a patient with Turner syndrome - Implications for localization of the X-inactivation center
    • Pettigrew AL, McCabe ERB, Elder FFB, Ledbetter DH. Isodicentric X-chromosome in a patient with Turner syndrome - implications for localization of the X-inactivation center. Hum Genet 1991;87:498-502.
    • (1991) Hum Genet , vol.87 , pp. 498-502
    • Pettigrew, A.L.1    McCabe, E.R.B.2    Elder, F.F.B.3    Ledbetter, D.H.4
  • 7
    • 0018405426 scopus 로고
    • Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter→q2102→pter)
    • Daniel A, Saville T, Southall DB. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter→q2102→pter). J Med Genet 1979;16:278-84.
    • (1979) J Med Genet , vol.16 , pp. 278-284
    • Daniel, A.1    Saville, T.2    Southall, D.B.3
  • 8
    • 0017844980 scopus 로고
    • Multiple cytogenetic methods used to identify a new structural rearrangement of the human X chromosome
    • de la Chapelle A, Gronman P, Latt SA. Multiple cytogenetic methods used to identify a new structural rearrangement of the human X chromosome. Cytogenet Cell Genet 1978;20: 204-12.
    • (1978) Cytogenet Cell Genet , vol.20 , pp. 204-212
    • De La Chapelle, A.1    Gronman, P.2    Latt, S.A.3
  • 9
    • 0019979923 scopus 로고
    • X-chromosomes attached by their long arm: Case report and replication kinetics of the rearranged X-chromosome
    • Petit P, Fryns JP, Koumans J, Van den Berghe H. X-chromosomes attached by their long arm: case report and replication kinetics of the rearranged X-chromosome. Clin Genet 1982;21:384-7.
    • (1982) Clin Genet , vol.21 , pp. 384-387
    • Petit, P.1    Fryns, J.P.2    Koumans, J.3    Van Den Berghe, H.4
  • 10
    • 0023783973 scopus 로고
    • Familial occurrence of isodicentric X chromosomes with different breakpoints
    • Midro AT, Kulikowski K, Sawicka A, Panasiuk B, Korsak E. Familial occurrence of isodicentric X chromosomes with different breakpoints. Clin Genet 1988;34:153-60.
    • (1988) Clin Genet , vol.34 , pp. 153-160
    • Midro, A.T.1    Kulikowski, K.2    Sawicka, A.3    Panasiuk, B.4    Korsak, E.5
  • 11
    • 0020503310 scopus 로고
    • Replication and inactivation of an isodicentric X: Presence of an inactive centromere influences the replication patterns
    • Fryns JP, Petit P, Kleczkowska A, Van den Berghe H. Replication and inactivation of an isodicentric X: presence of an inactive centromere influences the replication patterns. Clin Genet 1983;24:180-3.
    • (1983) Clin Genet , vol.24 , pp. 180-183
    • Fryns, J.P.1    Petit, P.2    Kleczkowska, A.3    Van Den Berghe, H.4
  • 12
    • 0018976648 scopus 로고
    • Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion
    • Yu CW, Chen H, Morrison J. Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion. Hum Genet 1980;56:71-9.
    • (1980) Hum Genet , vol.56 , pp. 71-79
    • Yu, C.W.1    Chen, H.2    Morrison, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.