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Volumn 134 A, Issue 3, 2005, Pages 334-337

Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27-28 for preaxial defects [1]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME DUPLICATION; CYTOGENETICS; FEMALE; HUMAN; HYPOPLASIA; KARYOTYPE; LETTER; MALE; PARTIAL 4Q TRISOMY; PHENOTYPE; PRIORITY JOURNAL; THUMB MALFORMATION; TRISOMY;

EID: 16344395194     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30644     Document Type: Letter
Times cited : (14)

References (15)
  • 1
    • 0017077334 scopus 로고
    • Partial trisomy 4q due to familial 2/4 translocation
    • Biedermann B, Bower P. 1976. Partial trisomy 4q due to familial 2/4 translocation. Hum Genet 33:147-153.
    • (1976) Hum Genet , vol.33 , pp. 147-153
    • Biedermann, B.1    Bower, P.2
  • 2
    • 0018625617 scopus 로고
    • Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11)
    • Bonfante A, Stella M, Rossi G. 1979. Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11). Hum Genet 52:85-90.
    • (1979) Hum Genet , vol.52 , pp. 85-90
    • Bonfante, A.1    Stella, M.2    Rossi, G.3
  • 5
    • 0030819236 scopus 로고    scopus 로고
    • Familial tandem duplication of band q31.1 to q32.3 on chromosome 4 with mild phenotypic effect
    • Goodman BK, Capone GT, Hennessey J, Thomas GH. 1997. Familial tandem duplication of band q31.1 to q32.3 on chromosome 4 with mild phenotypic effect. Am J Med Genet 73:119-124.
    • (1997) Am J Med Genet , vol.73 , pp. 119-124
    • Goodman, B.K.1    Capone, G.T.2    Hennessey, J.3    Thomas, G.H.4
  • 8
    • 0036021289 scopus 로고    scopus 로고
    • Trisomy 4q syndrome: Presentation of a new case and review of the literature
    • Lundin C, Zech L, Sjors K, Wadelius C, Anneren G. 2002. Trisomy 4q syndrome: Presentation of a new case and review of the literature. Ann Génét 45(2):53-57.
    • (2002) Ann Génét , vol.45 , Issue.2 , pp. 53-57
    • Lundin, C.1    Zech, L.2    Sjors, K.3    Wadelius, C.4    Anneren, G.5
  • 9
    • 0029879726 scopus 로고
    • Pure partial trisomy 4q25-qter owing to a de novo 4q22 translocation
    • Mikelsaar RV, Lurie IW, Ilus TE. 1995. Pure partial trisomy 4q25-qter owing to a de novo 4q22 translocation. J Med Genet 33:344-345.
    • (1995) J Med Genet , vol.33 , pp. 344-345
    • Mikelsaar, R.V.1    Lurie, I.W.2    Ilus, T.E.3
  • 10
    • 0037487191 scopus 로고    scopus 로고
    • Cytogenetic and molecular characterization of a de novo 4q24qter duplication: Contribution to the associated phenotype
    • Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P. 2003. Cytogenetic and molecular characterization of a de novo 4q24qter duplication: contribution to the associated phenotype. Am J Med Genet 118A:122-126.
    • (2003) Am J Med Genet , vol.118 A , pp. 122-126
    • Rinaldi, R.1    De Bernardo, C.2    Assumma, M.3    Grammatico, B.4    Buffone, E.5    Poscente, M.6    Grammatico, P.7
  • 12
    • 0015392345 scopus 로고
    • Partial trisomy 4 resulting from a 4/18 reciprocal translocation
    • Surana RB, Conen PE. 1972. Partial trisomy 4 resulting from a 4/18 reciprocal translocation. Ann Genet 15:191-194.
    • (1972) Ann Genet , vol.15 , pp. 191-194
    • Surana, R.B.1    Conen, P.E.2
  • 13
    • 0016856980 scopus 로고
    • Uneinheitlicher phanotipbei partialtrisomie 4q
    • Vogel W, Siebers JW, Gunkel J. 1975. Uneinheitlicher Phanotipbei partialtrisomie 4q. Humangenetik 28:103-112.
    • (1975) Humangenetik , vol.28 , pp. 103-112
    • Vogel, W.1    Siebers, J.W.2    Gunkel, J.3
  • 15
    • 0029005848 scopus 로고
    • Further contribution to the description of phenotypes associated with partial 4q duplication
    • Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G. 1995. Further contribution to the description of phenotypes associated with partial 4q duplication. Am J Med Genet 57:69-73.
    • (1995) Am J Med Genet , vol.57 , pp. 69-73
    • Zollino, M.1    Zampino, G.2    Torrioli, G.3    Pomponi, M.G.4    Neri, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.