메뉴 건너뛰기




Volumn 26, Issue 3, 2006, Pages 286-290

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Author keywords

11q terminal deletion; Molecular breakpoint mapping; Prenatal ultrasound; Ventricular dilatation

Indexed keywords

ADULT; AMNIOCENTESIS; AMNIOTIC FLUID CELL; ARTICLE; BRAIN VENTRICLE; CASE REPORT; CHROMOSOME 11Q DELETION SYNDROME; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DNA POLYMORPHISM; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FETUS; FETUS KARYOTYPING; GENE DELETION; GROWTH RETARDATION; HUMAN; JACOBSEN SYNDROME; KIDNEY ANOMALY; LIMB MALFORMATION; MECKEL DIVERTICULUM; MONOSOMY; OLIGOHYDRAMNIOS; PHENOTYPE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; TELOMERE; THROMBOCYTOPENIA;

EID: 33645383996     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1408     Document Type: Article
Times cited : (16)

References (12)
  • 1
    • 0042832501 scopus 로고    scopus 로고
    • Prenatal detection of rare chromosomal autosomal abnormalities in Europe
    • Baena N, De Vigan C, Cariati E, et al. EUROSCAN Working Group. 2003. Prenatal detection of rare chromosomal autosomal abnormalities in Europe. Am J Med Genet A 118(4): 319-327.
    • (2003) Am J Med Genet A , vol.118 , Issue.4 , pp. 319-327
    • Baena, N.1    De Vigan, C.2    Cariati, E.3
  • 2
    • 1842715120 scopus 로고    scopus 로고
    • Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye
    • Boehm D, Herold S, Kuechler A, Liehr T, Laccone F. 2004. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat 4: 368-378.
    • (2004) Hum Mutat , vol.4 , pp. 368-378
    • Boehm, D.1    Herold, S.2    Kuechler, A.3    Liehr, T.4    Laccone, F.5
  • 3
    • 0035011117 scopus 로고    scopus 로고
    • Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts
    • Chen CP, Chern SR, Tzen CY, et al. 2001. Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat Diagn 21: 317-320.
    • (2001) Prenat Diagn , vol.21 , pp. 317-320
    • Chen, C.P.1    Chern, S.R.2    Tzen, C.Y.3
  • 4
    • 1542380918 scopus 로고    scopus 로고
    • Prenatal diagnosis of the distal 11q deletion and review of the literature
    • Chen CP, Chern SR, Chang TY, et al. 2004. Prenatal diagnosis of the distal 11q deletion and review of the literature. Prenat Diagn 24: 130-136.
    • (2004) Prenat Diagn , vol.24 , pp. 130-136
    • Chen, C.P.1    Chern, S.R.2    Chang, T.Y.3
  • 5
    • 0030950952 scopus 로고    scopus 로고
    • Preferential loss of the paternal alleles in the 18q- Syndrome
    • Cody JD, Pierce JF, Brkanac Z, et al. 1997. Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet 69: 280-286.
    • (1997) Am J Med Genet , vol.69 , pp. 280-286
    • Cody, J.D.1    Pierce, J.F.2    Brkanac, Z.3
  • 7
    • 3342974500 scopus 로고    scopus 로고
    • The 11qterminal deletion disorder: A prospective study of 110 cases
    • Grossfeld PD, Mattina T, Lai Z, et al. and the 11q consortium. 2004. The 11qterminal deletion disorder: a prospective study of 110 cases. Am J Med Genet 129A: 51-61.
    • (2004) Am J Med Genet , vol.129 A , pp. 51-61
    • Grossfeld, P.D.1    Mattina, T.2    Lai, Z.3
  • 8
    • 0035078603 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
    • Mainardi PC, Perfumo C, Cali A, et al. 2001. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 38: 151-158.
    • (2001) J Med Genet , vol.38 , pp. 151-158
    • Mainardi, P.C.1    Perfumo, C.2    Cali, A.3
  • 10
    • 0032546337 scopus 로고    scopus 로고
    • Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B
    • Michaelis RC, Velagaleti GV, Jones C, et al. 1998. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am J Med Genet 76: 222-228.
    • (1998) Am J Med Genet , vol.76 , pp. 222-228
    • Michaelis, R.C.1    Velagaleti, G.V.2    Jones, C.3
  • 11
    • 0028910140 scopus 로고
    • Clinical and molecular characterization of patients with distal 11q deletions
    • Penny LA, Dell'Aquila M, Jones MC, et al. 1995. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56: 676-683.
    • (1995) Am J Hum Genet , vol.56 , pp. 676-683
    • Penny, L.A.1    Dell'Aquila, M.2    Jones, M.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.