메뉴 건너뛰기




Volumn 137 A, Issue 3, 2005, Pages 336-338

Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome [1]

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; AUTOPSY; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 5; CHROMOSOME PAINTING; CLINICAL FEATURE; DE LANGE SYNDROME; DELIVERY; DIAPHRAGM HERNIA; FACIES; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GROWTH RETARDATION; HIRSUTISM; HUMAN; INCIDENCE; KARYOTYPE 46,XY; LETTER; LIMB MALFORMATION; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS;

EID: 24344509111     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30856     Document Type: Letter
Times cited : (23)

References (16)
  • 1
    • 33646219581 scopus 로고    scopus 로고
    • Diaphragmatic hernia
    • Bianchi D, Crombleholme T, D'Alton M, editors. New York, NY: McGraw-Hill
    • Bianchi D, Cronbleholme T, D'Alton M. 2000. Diaphragmatic hernia. In: Bianchi D, Crombleholme T, D'Alton M, editors. Fetology. 1st edition. New York, NY: McGraw-Hill. p 299-311.
    • (2000) Fetology. 1st Edition , pp. 299-311
    • Bianchi, D.1    Cronbleholme, T.2    D'Alton, M.3
  • 3
    • 0033976407 scopus 로고    scopus 로고
    • Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: Further confirmation
    • discussion 149-151
    • Hand JL, Michels W, Marinello MJ, Ketterling RP, Jalal SM. 2000. Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: Further confirmation. Prenat Diagn 20(2):144-148; discussion 149-151.
    • (2000) Prenat Diagn , vol.20 , Issue.2 , pp. 144-148
    • Hand, J.L.1    Michels, W.2    Marinello, M.J.3    Ketterling, R.P.4    Jalal, S.M.5
  • 4
    • 2642576932 scopus 로고    scopus 로고
    • Prenatal diagnosis dilemma: Fetus with del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome
    • Hulinsky R, Winesette H, Dent K, Silver R, King J, Lowichik A, Chen Z, Viskochil D. 2003. Prenatal diagnosis dilemma: Fetus with del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. Am J Hum Genet 73(Suppl):602.
    • (2003) Am J Hum Genet , vol.73 , Issue.SUPPL. , pp. 602
    • Hulinsky, R.1    Winesette, H.2    Dent, K.3    Silver, R.4    King, J.5    Lowichik, A.6    Chen, Z.7    Viskochil, D.8
  • 5
    • 0025898874 scopus 로고
    • A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome
    • Ireland M, English C, Cross I, Houlsby WT, Burn J. 1991. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. J Med Genet 28(9):639-640.
    • (1991) J Med Genet , vol.28 , Issue.9 , pp. 639-640
    • Ireland, M.1    English, C.2    Cross, I.3    Houlsby, W.T.4    Burn, J.5
  • 8
    • 0026758996 scopus 로고
    • Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5
    • Keppen LD, Gollin SM, Edwards D, Sawyer J, Wilson W, Overhauser J. 1992. Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5. Am J Med Genet 44(3):356-360.
    • (1992) Am J Med Genet , vol.44 , Issue.3 , pp. 356-360
    • Keppen, L.D.1    Gollin, S.M.2    Edwards, D.3    Sawyer, J.4    Wilson, W.5    Overhauser, J.6
  • 10
    • 0036191538 scopus 로고    scopus 로고
    • Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome
    • Marino T, Wheeler PG, Simpson LL, Craigo SD, Bianchi DW. 2002. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenat Diagn 22(2):144-147.
    • (2002) Prenat Diagn , vol.22 , Issue.2 , pp. 144-147
    • Marino, T.1    Wheeler, P.G.2    Simpson, L.L.3    Craigo, S.D.4    Bianchi, D.W.5
  • 11
    • 0021970795 scopus 로고
    • The Brachmann-de Lange syndrome
    • Opitz JM. 1985. The Brachmann-de Lange syndrome. Am J Med Genet 22(1):89-102.
    • (1985) Am J Med Genet , vol.22 , Issue.1 , pp. 89-102
    • Opitz, J.M.1
  • 12
    • 0023031758 scopus 로고
    • Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype
    • Overhauser J, Golbus MS, Schonberg SA, Wasmuth JJ. 1986. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet 39(1): 1-10.
    • (1986) Am J Hum Genet , vol.39 , Issue.1 , pp. 1-10
    • Overhauser, J.1    Golbus, M.S.2    Schonberg, S.A.3    Wasmuth, J.J.4
  • 13
    • 0019403819 scopus 로고
    • Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5
    • Taylor MJ, Josifek K. 1981. Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5. Am J Med Genet 9(1): 5-11.
    • (1981) Am J Med Genet , vol.9 , Issue.1 , pp. 5-11
    • Taylor, M.J.1    Josifek, K.2
  • 14
    • 0030449719 scopus 로고    scopus 로고
    • Etiologic and genetic factors in congenital diaphragmatic hernia
    • Tibboel D, Gaag AV. 1996. Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol 23(4):689-699.
    • (1996) Clin Perinatol , vol.23 , Issue.4 , pp. 689-699
    • Tibboel, D.1    Gaag, A.V.2
  • 15
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36(6):636-641.
    • (2004) Nat Genet , vol.36 , Issue.6 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5
  • 16
    • 0035934007 scopus 로고    scopus 로고
    • Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome
    • Urban M, Hartung J. 2001. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 102(1):73-75.
    • (2001) Am J Med Genet , vol.102 , Issue.1 , pp. 73-75
    • Urban, M.1    Hartung, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.