메뉴 건너뛰기




Volumn 27, Issue 5, 2007, Pages 471-474

Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia

Author keywords

Chromosome 15 deletion; Diaphragmatic hernia; Intra uterine growth retardation; Prenatal diagnosis; Ring chromosome 15

Indexed keywords

ADULT; AMNION CELL; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; DIAPHRAGM HERNIA; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RING CHROMOSOME; ABORTION; CHROMOSOME 15; DIFFERENTIAL DIAGNOSIS; GENETICS; MULTIPLE MALFORMATION SYNDROME; PREGNANCY; PRENATAL DEVELOPMENT;

EID: 34347225551     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1707     Document Type: Article
Times cited : (11)

References (20)
  • 1
    • 4043066435 scopus 로고    scopus 로고
    • Betremieux P, Gaillot T, de la Pintiere A, et al. A Population-Based Study. 2004. Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. Prenat Diagn 24: 487-493.
    • Betremieux P, Gaillot T, de la Pintiere A, et al. A Population-Based Study. 2004. Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. Prenat Diagn 24: 487-493.
  • 2
    • 1842429078 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?
    • Biggio JR, Descartes MD, Carroll AJ, Holt RL. 2004. Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? Am J Med Genet 126: 183-185.
    • (2004) Am J Med Genet , vol.126 , pp. 183-185
    • Biggio, J.R.1    Descartes, M.D.2    Carroll, A.J.3    Holt, R.L.4
  • 3
    • 0032406489 scopus 로고    scopus 로고
    • Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis
    • Chen CP, Lee CC, Pan CW, Kir TY, Chen BF. 1998. Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Prenat Diagn 18: 1289-1293.
    • (1998) Prenat Diagn , vol.18 , pp. 1289-1293
    • Chen, C.P.1    Lee, C.C.2    Pan, C.W.3    Kir, T.Y.4    Chen, B.F.5
  • 5
    • 29244446270 scopus 로고    scopus 로고
    • Ring chromosome 15: Characterization by array CGH
    • Glass IA, Rauen KA, Chen E, et al. 2006. Ring chromosome 15: characterization by array CGH. Hum Genet 118: 611-617.
    • (2006) Hum Genet , vol.118 , pp. 611-617
    • Glass, I.A.1    Rauen, K.A.2    Chen, E.3
  • 6
    • 0036821820 scopus 로고    scopus 로고
    • A 4-Mb critical region for intrauterine growth retardation at 15q26
    • Harada N, Shimokawa O, Nagai T, et al. 2002. A 4-Mb critical region for intrauterine growth retardation at 15q26. Clin Genet 62: 340-342.
    • (2002) Clin Genet , vol.62 , pp. 340-342
    • Harada, N.1    Shimokawa, O.2    Nagai, T.3
  • 7
    • 8344264679 scopus 로고    scopus 로고
    • Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: A new case and discussion of the literature
    • Hengstschlager M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G. 2004. Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature. Fetal Diagn Ther 19: 510-512.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 510-512
    • Hengstschlager, M.1    Mittermayer, C.2    Repa, C.3    Drahonsky, R.4    Deutinger, J.5    Bernaschek, G.6
  • 8
    • 84979191084 scopus 로고
    • A ring chromosome in the 13-15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity
    • Jacobsen P. 1966. A ring chromosome in the 13-15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas 55: 188-191.
    • (1966) Hereditas , vol.55 , pp. 188-191
    • Jacobsen, P.1
  • 9
    • 23844528772 scopus 로고    scopus 로고
    • Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation
    • Kawashima Y, Kanzaki S, Yang F, et al. 2005. Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab 90: 4679-4687.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4679-4687
    • Kawashima, Y.1    Kanzaki, S.2    Yang, F.3
  • 10
    • 20244372562 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
    • Klaassens M, van Dooren M, Eussen HJ, et al. 2005. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76: 877-882.
    • (2005) Am J Hum Genet , vol.76 , pp. 877-882
    • Klaassens, M.1    van Dooren, M.2    Eussen, H.J.3
  • 11
    • 0035687850 scopus 로고    scopus 로고
    • Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15
    • Liu YH, Chang SD, Chen FP. 2001. Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15. Prenat Diagn 21: 1031-1033.
    • (2001) Prenat Diagn , vol.21 , pp. 1031-1033
    • Liu, Y.H.1    Chang, S.D.2    Chen, F.P.3
  • 12
    • 33745587820 scopus 로고    scopus 로고
    • Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects
    • Lopez I, Bafalliu JA, Bernabe MC, Garcia F, Costa M, Guillen-Navarro E. 2006. Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects. Prenat Diagn 26: 577-580.
    • (2006) Prenat Diagn , vol.26 , pp. 577-580
    • Lopez, I.1    Bafalliu, J.A.2    Bernabe, M.C.3    Garcia, F.4    Costa, M.5    Guillen-Navarro, E.6
  • 13
    • 25644446165 scopus 로고    scopus 로고
    • Detection of an unexpected subtelomeric 15q26.2→qter deletion in a little girl: Clinical and cytogenetic studies
    • Pinson L, Perrin A, Plouzennec C, et al. 2005. Detection of an unexpected subtelomeric 15q26.2→qter deletion in a little girl: clinical and cytogenetic studies. Am J Med Genet 138: 160-165.
    • (2005) Am J Med Genet , vol.138 , pp. 160-165
    • Pinson, L.1    Perrin, A.2    Plouzennec, C.3
  • 14
    • 0003827196 scopus 로고    scopus 로고
    • Schinzel A ed, 2nd edn, Walter de Gruyter: Berlin
    • Schinzel A (ed.). 2001. Unbalanced Chromosome Aberrations in Man (2nd edn). Walter de Gruyter: Berlin.
    • (2001) Unbalanced Chromosome Aberrations in Man
  • 15
    • 0035005199 scopus 로고    scopus 로고
    • Deletion 15q24-26 in prenatally detected diaphragmatic hernia: Increasing evidence of a candidate region for diaphragmatic development
    • Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E. 2001. Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn 21: 289-292.
    • (2001) Prenat Diagn , vol.21 , pp. 289-292
    • Schlembach, D.1    Zenker, M.2    Trautmann, U.3    Ulmer, R.4    Beinder, E.5
  • 16
    • 33747768579 scopus 로고    scopus 로고
    • Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: Mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2
    • Slavotinek AM, Moshrefi A, Davis R, et al. 2006. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 14: 999-1008.
    • (2006) Eur J Hum Genet , vol.14 , pp. 999-1008
    • Slavotinek, A.M.1    Moshrefi, A.2    Davis, R.3
  • 17
    • 4243094002 scopus 로고    scopus 로고
    • Congenital malformations of the diaphragm: Findings of the West Midlands congenital anomaly register 1995 to 2000
    • Tonks A, Wyldes M, Somerset DA, et al. 2004. Congenital malformations of the diaphragm: findings of the West Midlands congenital anomaly register 1995 to 2000. Prenat Diagn 24: 596-604.
    • (2004) Prenat Diagn , vol.24 , pp. 596-604
    • Tonks, A.1    Wyldes, M.2    Somerset, D.A.3
  • 18
    • 0034840314 scopus 로고    scopus 로고
    • De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes
    • Tonnies H, Schulze I, Hennies H, Neumann LM, Keitzer R, Neitzel H. 2001. De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. J Med Genet 38: 617-621.
    • (2001) J Med Genet , vol.38 , pp. 617-621
    • Tonnies, H.1    Schulze, I.2    Hennies, H.3    Neumann, L.M.4    Keitzer, R.5    Neitzel, H.6
  • 20
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, Van Ravenswaaij CM, Admiraal R, et al. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957.
    • (2004) Nat Genet , vol.36 , pp. 955-957
    • Vissers, L.E.1    Van Ravenswaaij, C.M.2    Admiraal, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.