메뉴 건너뛰기




Volumn 33, Issue 5, 2013, Pages 394-396

Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery

Author keywords

Aortic arch branching abnormalities; duplication 17p11.2; fetal echocardiography; genetic syndrome; hypoplastic left ventricle

Indexed keywords

ABERRANT RIGHT SUBCLAVIAN ARTERY; ARTERY MALFORMATION; ARTICLE; CASE REPORT; CHROMOSOME 17P; CONGENITAL HEART MALFORMATION; ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; KARYOTYPE 46,XY; MITRAL AORTIC ATRESIA; NEWBORN; NORWOOD PROCEDURE; POTOCKI LUPSKI SYNDROME; PRENATAL DIAGNOSIS;

EID: 84877270769     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2012.77     Document Type: Article
Times cited : (8)

References (14)
  • 1
    • 34147169956 scopus 로고    scopus 로고
    • Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
    • Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007; 80(4): 633-649.
    • (2007) Am J Hum Genet , vol.80 , Issue.4 , pp. 633-649
    • Potocki, L.1    Bi, W.2    Treadwell-Deering, D.3    Carvalho, C.M.4    Eifert, A.5    Friedman, E.M.6
  • 2
    • 84877283563 scopus 로고    scopus 로고
    • Medicine BCo cited 25 July 2011) January 2010
    • Medicine BCo. About Potocki-Lupski syndrome. Available from: http://www.bcm.edu/genetics/potocki-lupski/20 January 2010 (cited 25 July 2011).
    • About Potocki-Lupski Syndrome
  • 3
    • 78651236907 scopus 로고    scopus 로고
    • Prenatal ultrasound screening of congenital heart disease in an unselected national population: A 21-year experience
    • Marek J, Tomek V, Skovranek J, Povysilova V, Samanek M. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart 2011; 97(2): 124-130.
    • (2011) Heart , vol.97 , Issue.2 , pp. 124-130
    • Marek, J.1    Tomek, V.2    Skovranek, J.3    Povysilova, V.4    Samanek, M.5
  • 4
    • 77949275125 scopus 로고    scopus 로고
    • Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS
    • Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P et al. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet 2010; 86(3): 462-470.
    • (2010) Am J Hum Genet , vol.86 , Issue.3 , pp. 462-470
    • Zhang, F.1    Potocki, L.2    Sampson, J.B.3    Liu, P.4    Sanchez-Valle, A.5    Robbins-Furman, P.6
  • 5
    • 79251525210 scopus 로고    scopus 로고
    • The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome
    • Sanchez-Valle A, Pierpont ME, Potocki L. The severe end of the spectrum: hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A 2011; 155A(2): 363-366.
    • (2011) Am J Med Genet A , vol.155 A , Issue.2 , pp. 363-366
    • Sanchez-Valle, A.1    Pierpont, M.E.2    Potocki, L.3
  • 6
    • 79251495797 scopus 로고    scopus 로고
    • Potocki-Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart
    • Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH. Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Am J Med Genet A 2011; 155A(2): 367-371.
    • (2011) Am J Med Genet A , vol.155 A , Issue.2 , pp. 367-371
    • Yusupov, R.1    Roberts, A.E.2    Lacro, R.V.3    Sandstrom, M.4    Ligon, A.H.5
  • 8
    • 79953142850 scopus 로고    scopus 로고
    • The thymic-thoracic ratio in fetal heart defects: A simple way to identify fetuses at high risk for microdeletion 22q11
    • Chaoui R, Heling KS, Lopez AS, Thiel G, Karl K. The thymic-thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11. Ultrasound Obstet Gynecol 2011; 37(4): 397-403.
    • (2011) Ultrasound Obstet Gynecol , vol.37 , Issue.4 , pp. 397-403
    • Chaoui, R.1    Heling, K.S.2    Lopez, A.S.3    Thiel, G.4    Karl, K.5
  • 12
    • 0038540395 scopus 로고    scopus 로고
    • Choices physicians would make if they were the parents of a child with hypoplastic left heart syndrome
    • A1509
    • Kon AA, Ackerson L, Lo B. Choices physicians would make if they were the parents of a child with hypoplastic left heart syndrome. Am J Cardiol 2003; 91(12): 1506-1509, A1509.
    • (2003) Am J Cardiol , vol.91 , Issue.12 , pp. 1506-1509
    • Kon, A.A.1    Ackerson, L.2    Lo, B.3
  • 14
    • 77952315726 scopus 로고    scopus 로고
    • Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome
    • discussion 1813-1804
    • Patel A, Hickey E, Mavroudis C, Jacobs JP, Jacobs ML, Backer CL et al. Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome. Ann Thorac Surg 2010; 89(6): 1805-1813; discussion 1813-1804.
    • (2010) Ann Thorac Surg , vol.89 , Issue.6 , pp. 1805-1813
    • Patel, A.1    Hickey, E.2    Mavroudis, C.3    Jacobs, J.P.4    Jacobs, M.L.5    Backer, C.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.