메뉴 건너뛰기




Volumn 23, Issue 5, 2008, Pages 572-579

Partial trisomy of 7q: Case report and literature review

Author keywords

Nodular heterotopia; Partial trisomy 7q; Ventricular enlargement

Indexed keywords

BARBITURIC ACID DERIVATIVE; DIAZEPAM; PHENYTOIN; VALPROIC ACID;

EID: 42449117652     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807309776     Document Type: Article
Times cited : (20)

References (22)
  • 1
    • 0017893462 scopus 로고
    • A long unidentifiable extra chromosomal segment-a possible duplication of human 7q
    • Wahrman J., Cohen MM, Rosenmann A., et al. A long unidentifiable extra chromosomal segment-a possible duplication of human 7q. Cytogenet Cell Genet. 1978; 20:160-168.
    • (1978) Cytogenet Cell Genet , vol.20 , pp. 160-168
    • Wahrman, J.1    Cohen, M.M.2    Rosenmann, A.3
  • 2
    • 0018880818 scopus 로고
    • Full trisomy 7 and Potter syndrome
    • Yunis E., Ramirez E., Uribe JG Full trisomy 7 and Potter syndrome. Hum Genet. 1980; 54: 13-18.
    • (1980) Hum Genet , vol.54 , pp. 13-18
    • Yunis, E.1    Ramirez, E.2    Uribe, J.G.3
  • 3
    • 0020451792 scopus 로고
    • Tiny interstitial duplication of proximal 7q in association with a maternal para-centric inversion
    • Hoo JJ, Lorenz R., Fischer A., Fuhrmann W. Tiny interstitial duplication of proximal 7q in association with a maternal para-centric inversion. Hum Genet. 1982; 62: 113-116.
    • (1982) Hum Genet , vol.62 , pp. 113-116
    • Hoo, J.J.1    Lorenz, R.2    Fischer, A.3    Fuhrmann, W.4
  • 5
    • 0021070160 scopus 로고
    • De novo duplication of the 7q11-q22 region
    • Kardon NB, Pollack L., David J., et al. De novo duplication of the 7q11-q22 region. J Med Genet. 1983; 20: 471-473.
    • (1983) J Med Genet , vol.20 , pp. 471-473
    • Kardon, N.B.1    Pollack, L.2    David, J.3
  • 7
    • 0025008535 scopus 로고
    • Clinical diagnosis of partial duplication 7q
    • Bartsch O., Kalbe U., Ngo TKN, et al. Clinical diagnosis of partial duplication 7q. Am J Med Genet. 1990; 37: 254-257.
    • (1990) Am J Med Genet , vol.37 , pp. 254-257
    • Bartsch, O.1    Kalbe, U.2    Ngo, T.K.N.3
  • 8
    • 0025101075 scopus 로고
    • Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7
    • Romain DR, Cairney H., Stewart D., et al. Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. J Med Genet. 1990; 27: 109-113.
    • (1990) J Med Genet , vol.27 , pp. 109-113
    • Romain, D.R.1    Cairney, H.2    Stewart, D.3
  • 9
    • 0001650677 scopus 로고
    • Duplication 7q resulting from a maternal insertional translocation
    • Humphreys MW, Magee AC, Nevin NC Duplication 7q resulting from a maternal insertional translocation. J Med Genet. 1991;28: 274.
    • (1991) J Med Genet , vol.28 , pp. 274
    • Humphreys, M.W.1    Magee, A.C.2    Nevin, N.C.3
  • 10
    • 0026451619 scopus 로고
    • De novo inverted duplication of chromosome 7
    • Haslam JS, Norman AM De novo inverted duplication of chromosome 7. J Med Genet. 1992; 29: 837-838.
    • (1992) J Med Genet , vol.29 , pp. 837-838
    • Haslam, J.S.1    Norman, A.M.2
  • 11
    • 0026589393 scopus 로고
    • Tandem duplication of the terminal band of the long arm of chromosome7 (dir dup(7)(q36-qter))
    • Verma RS, Conte RA, Pitter JH Tandem duplication of the terminal band of the long arm of chromosome7 (dir dup(7)(q36-qter)). J Med Genet. 1992; 29: 344-345.
    • (1992) J Med Genet , vol.29 , pp. 344-345
    • Verma, R.S.1    Conte, R.A.2    Pitter, J.H.3
  • 12
    • 0032545310 scopus 로고    scopus 로고
    • Syndrome of facial, oral, and digital anomalies due to 7q21.2-q22.1 duplication
    • Lukusa T., Fryns JP Syndrome of facial, oral, and digital anomalies due to 7q21.2-q22.1 duplication. Am J Med Genet. 1998; 80: 454-458.
    • (1998) Am J Med Genet , vol.80 , pp. 454-458
    • Lukusa, T.1    Fryns, J.P.2
  • 13
    • 0033948949 scopus 로고    scopus 로고
    • Prenatal detection of trisomy for the entire long arm of chromosome 7
    • Ndah BV, Stead JA, Brancazio LR, et al. Prenatal detection of trisomy for the entire long arm of chromosome 7. J Med Genet. 2000; 37: 551-553.
    • (2000) J Med Genet , vol.37 , pp. 551-553
    • Ndah, B.V.1    Stead, J.A.2    Brancazio, L.R.3
  • 14
    • 0034858081 scopus 로고    scopus 로고
    • Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)
    • Courtens W., Vroman S., Vandenhove J., Wiedemann U., Schinzel A. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenat Diagn. 2001; 21: 642-648.
    • (2001) Prenat Diagn , vol.21 , pp. 642-648
    • Courtens, W.1    Vroman, S.2    Vandenhove, J.3    Wiedemann, U.4    Schinzel, A.5
  • 15
    • 0037159475 scopus 로고    scopus 로고
    • Pure partial trisomy 7q: Two new patients and review
    • Rodriguez L., López F., Paisán L., et al. Pure partial trisomy 7q: Two new patients and review. Am J Med Genet. 2003; 113: 218-224.
    • (2003) Am J Med Genet , vol.113 , pp. 218-224
    • Rodriguez, L.1    López, F.2    Paisán, L.3
  • 16
    • 0023707601 scopus 로고
    • The phenotype of partial dup(7q) reconsidered: A report of five new cases
    • Forabosco A., Baroncini A., Dalpra L., et al. The phenotype of partial dup(7q) reconsidered: A report of five new cases. Clin Genet. 1988; 34: 48-59.
    • (1988) Clin Genet , vol.34 , pp. 48-59
    • Forabosco, A.1    Baroncini, A.2    Dalpra, L.3
  • 18
    • 33747594579 scopus 로고    scopus 로고
    • Genetic malformations of cortical development
    • Guerrini R., Martini C. Genetic malformations of cortical development. Exp Brain Res. 2006; 173: 322-333.
    • (2006) Exp Brain Res , vol.173 , pp. 322-333
    • Guerrini, R.1    Martini, C.2
  • 19
    • 33745685474 scopus 로고    scopus 로고
    • Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations
    • Parrini E., Ramazzotti A., Dobyns WB, et al. Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006; 129: 1892-1906.
    • (2006) Brain , vol.129 , pp. 1892-1906
    • Parrini, E.1    Ramazzotti, A.2    Dobyns, W.B.3
  • 20
    • 0037465847 scopus 로고    scopus 로고
    • Periventricular heterotopia associated with chromosome 5p anomalies
    • Sheen VL, Wheless JW, Bodell A., et al. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003; 60: 1033-1066.
    • (2003) Neurology , vol.60 , pp. 1033-1066
    • Sheen, V.L.1    Wheless, J.W.2    Bodell, A.3
  • 21
    • 33645415686 scopus 로고    scopus 로고
    • Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    • Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006; 354:1370-1377.
    • (2006) N Engl J Med , vol.354 , pp. 1370-1377
    • Strauss, K.A.1    Puffenberger, E.G.2    Huentelman, M.J.3
  • 22
    • 33744821350 scopus 로고    scopus 로고
    • Periventricular nodular heterotopia and Williams syndrome
    • Ferland RJ, Gaitanis JN, Apse K., et al. Periventricular nodular heterotopia and Williams syndrome. Am J Med Genet. 2006; 140: 1305-1311.
    • (2006) Am J Med Genet , vol.140 , pp. 1305-1311
    • Ferland, R.J.1    Gaitanis, J.N.2    Apse, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.