메뉴 건너뛰기




Volumn 87, Issue 1, 1999, Pages 6-11

Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome

Author keywords

5p trisomy syndrome; Chromosome microdissection; FISH; Marker chromosome; Reverse in situ hybridization

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5P; CHROMOSOME BAND; CHROMOSOME MARKER; CHROMOSOME MICRODISSECTION; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; HUMAN; INFANT; PRIORITY JOURNAL; TRISOMY;

EID: 0033527728     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991105)87:1<6::AID-AJMG2>3.0.CO;2-I     Document Type: Article
Times cited : (35)

References (26)
  • 1
    • 0017758429 scopus 로고
    • "Complete 5p" trisomy: 1 Case and 19 translocation carriers in 6 generations
    • Brimblecombe FSW, Lewis FJ, Vowles M. 1977. "Complete 5p" trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet 14: 271-274.
    • (1977) J Med Genet , vol.14 , pp. 271-274
    • Brimblecombe, F.S.W.1    Lewis, F.J.2    Vowles, M.3
  • 4
    • 0023103270 scopus 로고
    • A case report of a de novo tandem duplication (5p)(p14-pter)
    • Chia NL, Bousfield LR, Johnson BH. 1987. A case report of a de novo tandem duplication (5p)(p14-pter). Clin Genet 31:65-69.
    • (1987) Clin Genet , vol.31 , pp. 65-69
    • Chia, N.L.1    Bousfield, L.R.2    Johnson, B.H.3
  • 6
    • 0028234224 scopus 로고
    • A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23)
    • Fujita M, Flori E, Lemaire F, Casanova R, Astruc D. 1994. A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23). Clin Genet 45:305-307.
    • (1994) Clin Genet , vol.45 , pp. 305-307
    • Fujita, M.1    Flori, E.2    Lemaire, F.3    Casanova, R.4    Astruc, D.5
  • 7
    • 0028001095 scopus 로고
    • Identification of cryptic sites of DNA sequence amplification in human breast cancer by chromosome microdissection
    • Guan XY, Meltzer PS, Dalton WS, Trent JM. 1994. Identification of cryptic sites of DNA sequence amplification in human breast cancer by chromosome microdissection. Nat Genet 8:155-161.
    • (1994) Nat Genet , vol.8 , pp. 155-161
    • Guan, X.Y.1    Meltzer, P.S.2    Dalton, W.S.3    Trent, J.M.4
  • 8
    • 0023821552 scopus 로고
    • Familial partial trisomy 5p resulting from segregation of an insertional translocation
    • Gustavson KH, Lundberg PO, Nicol P. 1988. Familial partial trisomy 5p resulting from segregation of an insertional translocation. Clin Genet 33:404-409.
    • (1988) Clin Genet , vol.33 , pp. 404-409
    • Gustavson, K.H.1    Lundberg, P.O.2    Nicol, P.3
  • 10
    • 0023221034 scopus 로고
    • Trisomy of the short arm of chromosome 5: Autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3)
    • Kleczkowska A, Fryns JP, Moerman P, Vanden berghe K, Vandenberghe H. 1987. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3). Clin Genet 32:49-56.
    • (1987) Clin Genet , vol.32 , pp. 49-56
    • Kleczkowska, A.1    Fryns, J.P.2    Moerman, P.3    Vanden Berghe, K.4    Vandenberghe, H.5
  • 12
    • 0344226428 scopus 로고
    • Totale trisomie 5p bei mütterlicher balancierter translocation: 46, xx inv ins (1;5)(p32 oder 34;pter p11)
    • Stuttgart: Thieme
    • Kunze J, Johs R, Tolksdorf M. 1980. Totale Trisomie 5p bei mütterlicher balancierter Translocation: 46, XX inv ins (1;5)(p32 oder 34;pter p11). Klinische Genetik in der Pädiatrie 2. Stuttgart: Thieme. p. 201-202.
    • (1980) Klinische Genetik in der Pädiatrie , vol.2 , pp. 201-202
    • Kunze, J.1    Johs, R.2    Tolksdorf, M.3
  • 14
    • 75949134950 scopus 로고
    • Ségrégation familiale d'une translocation 5-13 determinant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie de cri du chat et sa réciproque
    • Lejeune J, Lafourcade J, Berger R, Turpin R. 1964. Ségrégation familiale d'une translocation 5-13 determinant une monosomie et une trisomie partielles du bras court du chromosome 5: maladie de cri du chat et sa réciproque. CR Acad Sci (III)258:5767-5770.
    • (1964) CR Acad Sci (III) , vol.258 , pp. 5767-5770
    • Lejeune, J.1    Lafourcade, J.2    Berger, R.3    Turpin, R.4
  • 15
    • 0018734363 scopus 로고
    • Complete trisomy 5p: De novo translocation t(2;5)(q36;p11) with isochromosome 5p
    • Leschot NJ, Lim KS. 1979. Complete trisomy 5p: De novo translocation t(2;5)(q36;p11) with isochromosome 5p. Hum Genet 46:271-278.
    • (1979) Hum Genet , vol.46 , pp. 271-278
    • Leschot, N.J.1    Lim, K.S.2
  • 17
    • 0026849710 scopus 로고
    • Rapid generation of region specific probes by chromosome microdissection and their application
    • Meltzer PS, Guan XY, Burgess A, Trent JM. 1992. Rapid generation of region specific probes by chromosome microdissection and their application. Nat Genet 1:24-28.
    • (1992) Nat Genet , vol.1 , pp. 24-28
    • Meltzer, P.S.1    Guan, X.Y.2    Burgess, A.3    Trent, J.M.4
  • 18
    • 0020506651 scopus 로고
    • Complete trisomy 5p owing to de novo translocation, t(5;22)(q11;p11) with a familial pericentric inversion of chromosome 2, inv 2 (p21q11)
    • Orye E, Benoit Y, Van Mele B. 1983. Complete trisomy 5p owing to de novo translocation, t(5;22)(q11;p11) with a familial pericentric inversion of chromosome 2, inv 2 (p21q11). J Med Genet 20:394-395.
    • (1983) J Med Genet , vol.20 , pp. 394-395
    • Orye, E.1    Benoit, Y.2    Van Mele, B.3
  • 20
    • 0021324278 scopus 로고
    • Trisomy 5p: A second case occurring in a previously described kindred
    • Vowles M, McDermott A, Janota I. 1984. Trisomy 5p: a second case occurring in a previously described kindred. J Med Genet 21:144-156.
    • (1984) J Med Genet , vol.21 , pp. 144-156
    • Vowles, M.1    McDermott, A.2    Janota, I.3
  • 21
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 22
    • 0015752932 scopus 로고
    • Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombinant aneusomy)
    • Waiter S, Ruch JV, Lehmann M. 1973. Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombinant aneusomy). Hum Genet 20:355-359.
    • (1973) Hum Genet , vol.20 , pp. 355-359
    • Waiter, S.1    Ruch, J.V.2    Lehmann, M.3
  • 23
    • 0023734798 scopus 로고
    • Duplication of a small segment of 5p due to maternal recombination within a paracentric shift
    • Webb GC, Voullaire LE, Rogers JG. 1988. Duplication of a small segment of 5p due to maternal recombination within a paracentric shift. Am J Med Genet 30:875-881.
    • (1988) Am J Med Genet , vol.30 , pp. 875-881
    • Webb, G.C.1    Voullaire, L.E.2    Rogers, J.G.3
  • 24
    • 0017888702 scopus 로고
    • Partial trisomy for short and long arm of chromosome n°5. Two cases of two possible syndromes
    • Zabel B, Baumann JG, Conrad G. 1978. Partial trisomy for short and long arm of chromosome n°5. Two cases of two possible syndromes. J Med Genet 15:143-147.
    • (1978) J Med Genet , vol.15 , pp. 143-147
    • Zabel, B.1    Baumann, J.G.2    Conrad, G.3
  • 25


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.