메뉴 건너뛰기




Volumn 104, Issue 7, 2005, Pages 525-530

Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation

Author keywords

Chromosome deletion; Chromosomes, human, pair 19 translocation; Chromosomes, human, pair 9; In situ fluorescence hybridization

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 9P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 19; CLINICAL ARTICLE; FAMILY HISTORY; FEMALE; FINGER; FLUORESCENCE IN SITU HYBRIDIZATION; HERNIA; HUMAN; HYPOPIGMENTATION; HYPOPLASIA; MALE; MONOSOMY; NIPPLE; PHILTRUM; PSYCHOMOTOR RETARDATION; SCOLIOSIS; TRISOMY; TRISOMY 19Q; CASE REPORT; CHROMOSOME 19; CHROMOSOME 9; GENE TRANSLOCATION; INFANT;

EID: 24944479167     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (14)
  • 1
    • 0015788965 scopus 로고
    • Deletion of the short arm of chromosome 9(46,9p-): A new deletion syndrome
    • Alfi O, Donnell GN, Crandall BF, et al: Deletion of the short arm of chromosome 9(46,9p-): A new deletion syndrome. Ann Genet 1973;16:17-22.
    • (1973) Ann Genet , vol.16 , pp. 17-22
    • Alfi, O.1    Donnell, G.N.2    Crandall, B.F.3
  • 2
    • 0002675414 scopus 로고
    • Chromosome 9, partial monosomy 9p
    • Buyse ML, ed. Massachusetts: Blackwell Scientific Publications
    • Bianchi DW: Chromosome 9, partial monosomy 9p. In: Buyse ML, ed. Birth defects encyclopedia. Massachusetts: Blackwell Scientific Publications; 1990:353.
    • (1990) Birth Defects Encyclopedia , pp. 353
    • Bianchi, D.W.1
  • 3
    • 0023734622 scopus 로고
    • Eleven new cases of del (9p) and features from 80 cases
    • Huret JL, Leonard C, Forestier B, et al: Eleven new cases of del (9p) and features from 80 cases. J Med Genet 1988;25:741-9.
    • (1988) J Med Genet , vol.25 , pp. 741-749
    • Huret, J.L.1    Leonard, C.2    Forestier, B.3
  • 4
    • 0034193607 scopus 로고    scopus 로고
    • A new submicroscopic deletion that refines the 9p region for sex reversal
    • Vladimiro C, Bertini V, De Grand A, et al: A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 2000;65:203-12.
    • (2000) Genomics , vol.65 , pp. 203-212
    • Vladimiro, C.1    Bertini, V.2    De Grand, A.3
  • 5
    • 0032231448 scopus 로고    scopus 로고
    • A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779
    • Flejter WL, Fergestad J, Gorski J, et al: A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. Am J Hum Genet 1998;63:794-802.
    • (1998) Am J Hum Genet , vol.63 , pp. 794-802
    • Flejter, W.L.1    Fergestad, J.2    Gorski, J.3
  • 6
    • 0033009983 scopus 로고    scopus 로고
    • A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators
    • Raymond CS, Parker ED, Kettlewell JR, et al: A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum Mol Genet 1999;8:989-96.
    • (1999) Hum Mol Genet , vol.8 , pp. 989-996
    • Raymond, C.S.1    Parker, E.D.2    Kettlewell, J.R.3
  • 7
    • 0033678603 scopus 로고    scopus 로고
    • Sex-determining gene(s) on 9p: Clinical and molecular studies in six cases
    • Muroya K, Okuyama T, Goishi K, et al: Sex-determining gene(s) on 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 2000;85:3094-100.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3094-3100
    • Muroya, K.1    Okuyama, T.2    Goishi, K.3
  • 8
    • 0002001380 scopus 로고
    • Possible localization of a recessive testis forming gene on 9p24
    • Hoo JJ, Salafsky IS, Linn CC: Possible localization of a recessive testis forming gene on 9p24. Am J Hum Genet 1989;45:A73.
    • (1989) Am J Hum Genet , vol.45
    • Hoo, J.J.1    Salafsky, I.S.2    Linn, C.C.3
  • 10
    • 0026534062 scopus 로고
    • Assignment of the human TYRP(brown)locus to chromosome region 9p23 by nonradioactive in situ hybridization
    • Murty VV, Bouchard B, Mathew S, et al: Assignment of the human TYRP(brown)locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics 1992;13:227-9.
    • (1992) Genomics , vol.13 , pp. 227-229
    • Murty, V.V.1    Bouchard, B.2    Mathew, S.3
  • 12
    • 0034019736 scopus 로고    scopus 로고
    • First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH
    • Bhat M, Morrison PJ, Getty A, et al: First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH. Am J Med Genet 2000;91:201-3.
    • (2000) Am J Med Genet , vol.91 , pp. 201-203
    • Bhat, M.1    Morrison, P.J.2    Getty, A.3
  • 13
    • 0035175053 scopus 로고    scopus 로고
    • Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19
    • Hoffman S, Nelson D, Keeney D: Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19. Pharmacogenetics 2001;11:687-98.
    • (2001) Pharmacogenetics , vol.11 , pp. 687-698
    • Hoffman, S.1    Nelson, D.2    Keeney, D.3
  • 14
    • 30744466976 scopus 로고    scopus 로고
    • Genetic disorders and dysmorphic conditions
    • Zitelli BJ, Davis HW, eds. Philadephia: Mosby Inc.
    • Bay CA, Steele MW: Genetic disorders and dysmorphic conditions. In: Zitelli BJ, Davis HW, eds. Atlas of pediatric physical diagnosis. 4th ed. Philadephia: Mosby Inc.; 2002:5-7.
    • (2002) Atlas of Pediatric Physical Diagnosis. 4th Ed. , pp. 5-7
    • Bay, C.A.1    Steele, M.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.