메뉴 건너뛰기




Volumn 146, Issue 2, 2011, Pages 134-139

13q13.1-q13.2 deletion in tetralogy of Fallot: Clinical report and a literature review

Author keywords

Chromosome 13; Chromosome deletion; Congenital heart defect; Copy number variation; Tetralogy of Fallot

Indexed keywords

CITALOPRAM; METHYLPHENIDATE;

EID: 78650276262     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2010.05.070     Document Type: Review
Times cited : (9)

References (48)
  • 1
    • 0021914513 scopus 로고
    • Congenital heart disease: Prevalence at livebirth. The Baltimore-Washington Infant Study
    • C. Ferencz, J.D. Rubin, and R.J. McCarter Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study Am J Epidemiol 121 1985 31 36
    • (1985) Am J Epidemiol , vol.121 , pp. 31-36
    • Ferencz, C.1    Rubin, J.D.2    McCarter, R.J.3
  • 2
    • 17444434198 scopus 로고    scopus 로고
    • Frequency of 22q11 deletions in patients with conotruncal defects
    • E. Goldmuntz, B.J. Clark, and L.E. Mitchell Frequency of 22q11 deletions in patients with conotruncal defects J Am Coll Cardiol 32 1998 492 498
    • (1998) J Am Coll Cardiol , vol.32 , pp. 492-498
    • Goldmuntz, E.1    Clark, B.J.2    Mitchell, L.E.3
  • 3
    • 52049116340 scopus 로고    scopus 로고
    • Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management
    • A.E. Lin, C.T. Basson, and E. Goldmuntz Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management Genet Med 10 2008 469 494
    • (2008) Genet Med , vol.10 , pp. 469-494
    • Lin, A.E.1    Basson, C.T.2    Goldmuntz, E.3
  • 4
    • 17144468115 scopus 로고    scopus 로고
    • Frequent association of 22q11.2 deletion with tetralogy of Fallot
    • J. Maeda, H. Yamagishi, and R. Matsuoka Frequent association of 22q11.2 deletion with tetralogy of Fallot Am J Med Genet 92 2000 269 272
    • (2000) Am J Med Genet , vol.92 , pp. 269-272
    • Maeda, J.1    Yamagishi, H.2    Matsuoka, R.3
  • 5
    • 68149181705 scopus 로고    scopus 로고
    • De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
    • S.C. Greenway, A.C. Pereira, and J.C. Lin De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot Nat Genet 41 2009 931 935
    • (2009) Nat Genet , vol.41 , pp. 931-935
    • Greenway, S.C.1    Pereira, A.C.2    Lin, J.C.3
  • 6
    • 56349136292 scopus 로고    scopus 로고
    • Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease
    • W.L.A. Fung, E.W.C. Chow, and G.D. Webb Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease Int J Cardiol 131 2008 51 58
    • (2008) Int J Cardiol , vol.131 , pp. 51-58
    • Fung, W.L.A.1    Chow, E.W.C.2    Webb, G.D.3
  • 7
    • 57049132697 scopus 로고    scopus 로고
    • Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    • A.S. Bassett, C.R. Marshall, and A.C. Lionel Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome Hum Mol Genet 17 2008 4045 4053
    • (2008) Hum Mol Genet , vol.17 , pp. 4045-4053
    • Bassett, A.S.1    Marshall, C.R.2    Lionel, A.C.3
  • 8
    • 0021048051 scopus 로고
    • A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism
    • A. Benn, D. Warburton, and J.M. Byrne A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism Prenat Diagn 3 1983 297 302
    • (1983) Prenat Diagn , vol.3 , pp. 297-302
    • Benn, A.1    Warburton, D.2    Byrne, J.M.3
  • 9
    • 0032960849 scopus 로고    scopus 로고
    • Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46, XX, r(13)(p11q14)/46, XX, der(13)t(13;13)(q10;q14)
    • M. Gentile, A.L. Buonadonna, and F. Cariola Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46, XX, r(13)(p11q14)/46, XX, der(13)t(13;13)(q10;q14) J Med Genet 36 1999 77 82
    • (1999) J Med Genet , vol.36 , pp. 77-82
    • Gentile, M.1    Buonadonna, A.L.2    Cariola, F.3
  • 10
    • 62149141331 scopus 로고    scopus 로고
    • Genetic syndromes and congenital heart defects: How is surgical management affected?
    • R. Formigari, G. Michielon, and M.C. Digilio Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg 35 2009 606 614
    • (2009) Eur J Cardiothorac Surg , vol.35 , pp. 606-614
    • Formigari, R.1    Michielon, G.2    Digilio, M.C.3
  • 11
    • 32644487801 scopus 로고    scopus 로고
    • Genetic syndromes and outcome after surgical correction of tetralogy of Fallot
    • G. Michielon, B. Marino, and R. Formigari Genetic syndromes and outcome after surgical correction of tetralogy of Fallot Ann Thorac Surg 81 2006 968 975
    • (2006) Ann Thorac Surg , vol.81 , pp. 968-975
    • Michielon, G.1    Marino, B.2    Formigari, R.3
  • 12
    • 34248193319 scopus 로고    scopus 로고
    • Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking
    • J.C. Bakowska, H. Jupille, and P. Fatheddin Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking Mol Biol Cell 18 2007 1683 1692
    • (2007) Mol Biol Cell , vol.18 , pp. 1683-1692
    • Bakowska, J.C.1    Jupille, H.2    Fatheddin, P.3
  • 13
    • 42249105030 scopus 로고    scopus 로고
    • Genes in congenital heart disease: Atrioventricular valve formation
    • I.C. Joziasse, J.J. van de Smagt, and K. Smith Genes in congenital heart disease: atrioventricular valve formation Basic Res Cardiol 103 2008 216 227
    • (2008) Basic Res Cardiol , vol.103 , pp. 216-227
    • Joziasse, I.C.1    Van De Smagt, J.J.2    Smith, K.3
  • 14
    • 33748673792 scopus 로고    scopus 로고
    • Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    • S.A. Lesnik Oberstein, M. Kriek, and S.J. White Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase Am J Hum Genet 79 2006 562 566
    • (2006) Am J Hum Genet , vol.79 , pp. 562-566
    • Lesnik Oberstein, S.A.1    Kriek, M.2    White, S.J.3
  • 15
    • 60549083110 scopus 로고    scopus 로고
    • Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1, 3-glucosyltransferase that modifies thrombospondin type 1 repeats
    • T.Y. Heinonen, and M. Maki Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1, 3-glucosyltransferase that modifies thrombospondin type 1 repeats Ann Med 41 2009 2 10
    • (2009) Ann Med , vol.41 , pp. 2-10
    • Heinonen, T.Y.1    Maki, M.2
  • 17
    • 0015541929 scopus 로고
    • The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects
    • L. Quan, and D.W. Smith The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects J Pediatr 82 1973 104 107
    • (1973) J Pediatr , vol.82 , pp. 104-107
    • Quan, L.1    Smith, D.W.2
  • 18
    • 0022640393 scopus 로고
    • The VATER association. Analysis of 46 patients
    • D.D. Weaver, C.L. Mapstone, and P.L. Yu The VATER association. Analysis of 46 patients Am J Dis Child 140 1986 225 229
    • (1986) Am J Dis Child , vol.140 , pp. 225-229
    • Weaver, D.D.1    Mapstone, C.L.2    Yu, P.L.3
  • 19
    • 0030726834 scopus 로고    scopus 로고
    • Radial aplasia and chromosome 22q11 deletion
    • M.C. Digilio, A. Giannotti, and B. Marino Radial aplasia and chromosome 22q11 deletion J Med Genet 34 1997 942 944
    • (1997) J Med Genet , vol.34 , pp. 942-944
    • Digilio, M.C.1    Giannotti, A.2    Marino, B.3
  • 20
    • 33745906255 scopus 로고    scopus 로고
    • Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: Review of genetics and epidemiology
    • C. Shaw-Smith Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology J Med Genet 43 2006 545 554
    • (2006) J Med Genet , vol.43 , pp. 545-554
    • Shaw-Smith, C.1
  • 21
    • 0026569471 scopus 로고
    • Unbalanced 13;18 translocation and Williams syndrome
    • A. Colley, Y. Thakker, and H. Ward Unbalanced 13;18 translocation and Williams syndrome J Med Genet 29 1992 63 65
    • (1992) J Med Genet , vol.29 , pp. 63-65
    • Colley, A.1    Thakker, Y.2    Ward, H.3
  • 22
    • 0034542544 scopus 로고    scopus 로고
    • Circulatory effects of acute bradycardia in the human fetus as studied by Doppler ultrasound
    • U. Gembruch, and A.A. Baschat Circulatory effects of acute bradycardia in the human fetus as studied by Doppler ultrasound Ultrasound Obstet Gynecol 15 2000 424 427
    • (2000) Ultrasound Obstet Gynecol , vol.15 , pp. 424-427
    • Gembruch, U.1    Baschat, A.A.2
  • 23
    • 0017060019 scopus 로고
    • Sporadic bilateral retinoblastoma and 13q- chromosomal deletion
    • U. Francke, and F. Kung Sporadic bilateral retinoblastoma and 13q- chromosomal deletion Med Pediatr Oncol 2 1976 379 385
    • (1976) Med Pediatr Oncol , vol.2 , pp. 379-385
    • Francke, U.1    Kung, F.2
  • 24
    • 0016278606 scopus 로고
    • Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13
    • R.O. Howard, W.R. Breg, and D.M. Albert Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13 Arch Ophthalmol 92 1974 490 493
    • (1974) Arch Ophthalmol , vol.92 , pp. 490-493
    • Howard, R.O.1    Breg, W.R.2    Albert, D.M.3
  • 25
    • 0018145013 scopus 로고
    • A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)
    • R. Walbaum, P. Francois, and J.P. Farriaux A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl) Hum Genet 44 1978 219 226
    • (1978) Hum Genet , vol.44 , pp. 219-226
    • Walbaum, R.1    Francois, P.2    Farriaux, J.P.3
  • 26
    • 0017735383 scopus 로고
    • Chromosomal anomalies in patients with retinoblastoma
    • M.G. Wilson, A.J. Ebbin, and J.W. Towner Chromosomal anomalies in patients with retinoblastoma Clin Genet 12 1977 1 8
    • (1977) Clin Genet , vol.12 , pp. 1-8
    • Wilson, M.G.1    Ebbin, A.J.2    Towner, J.W.3
  • 27
    • 0014898511 scopus 로고
    • Dq-, Dr and retinoblastoma
    • A.I. Taylor Dq-, Dr and retinoblastoma Humangenetik 10 1970 209 217
    • (1970) Humangenetik , vol.10 , pp. 209-217
    • Taylor, A.I.1
  • 28
    • 0019913479 scopus 로고
    • Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother
    • K. Michalova, F. Kloucek, and J. Musilova Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother Hum Genet 61 1982 264 266
    • (1982) Hum Genet , vol.61 , pp. 264-266
    • Michalova, K.1    Kloucek, F.2    Musilova, J.3
  • 29
    • 0018608267 scopus 로고
    • Interstitial deletion 13q syndromes: A report on two unrelated patients
    • M. Serena-Lungarotti, A. Calabro, and G. Mariotti Interstitial deletion 13q syndromes: a report on two unrelated patients Hum Genet 52 1979 269 274
    • (1979) Hum Genet , vol.52 , pp. 269-274
    • Serena-Lungarotti, M.1    Calabro, A.2    Mariotti, G.3
  • 30
    • 0020471341 scopus 로고
    • Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14
    • J.J. Hoo, M. Koch, and B. Ziemsen Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14 Hum Genet 60 1982 276 277
    • (1982) Hum Genet , vol.60 , pp. 276-277
    • Hoo, J.J.1    Koch, M.2    Ziemsen, B.3
  • 32
    • 0018331054 scopus 로고
    • Interstital deletion of 13q associated with retinoblastoma and congenital malformations
    • P. Petit, and J.P. Fryns Interstital deletion of 13q associated with retinoblastoma and congenital malformations Ann Génét 22 1979 106 107
    • (1979) Ann Génét , vol.22 , pp. 106-107
    • Petit, P.1    Fryns, J.P.2
  • 33
    • 0036135524 scopus 로고    scopus 로고
    • Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter
    • M. Drummond-Borg, A.S. Kulharya, and V. Tonk Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter Am J Med Genet 107 2002 61 63
    • (2002) Am J Med Genet , vol.107 , pp. 61-63
    • Drummond-Borg, M.1    Kulharya, A.S.2    Tonk, V.3
  • 34
    • 0027402372 scopus 로고
    • Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
    • S. Brown, S. Gersen, and K. Anyane-Yeboa Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature Am J Med Genet 45 1993 52 59
    • (1993) Am J Med Genet , vol.45 , pp. 52-59
    • Brown, S.1    Gersen, S.2    Anyane-Yeboa, K.3
  • 35
    • 0020627270 scopus 로고
    • A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q
    • T. Motegi, M. Kaga, and Y. Yanagawa A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q Hum Genet 64 1983 160 162
    • (1983) Hum Genet , vol.64 , pp. 160-162
    • Motegi, T.1    Kaga, M.2    Yanagawa, Y.3
  • 36
    • 0035076386 scopus 로고    scopus 로고
    • Aneurysm of the ductus arteriosus in a neonate with 13q-deletion
    • G. Naulaers, K. Devriendt, and P. Moerman Aneurysm of the ductus arteriosus in a neonate with 13q-deletion Am J Perinatol 18 2001 11 14
    • (2001) Am J Perinatol , vol.18 , pp. 11-14
    • Naulaers, G.1    Devriendt, K.2    Moerman, P.3
  • 37
    • 63749095019 scopus 로고    scopus 로고
    • Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux
    • N.L. Champaigne, N.A. Laird, and J.K. Northup Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux Am J Med Genet A 149A 2009 751 754
    • (2009) Am J Med Genet A , vol.149 , pp. 751-754
    • Champaigne, N.L.1    Laird, N.A.2    Northup, J.K.3
  • 38
    • 0023199873 scopus 로고
    • Deletion (13)(q13q14.3) with retinoblastoma: Confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion
    • T. Motegi, K. Ikeda, and K. Watanabe Deletion (13)(q13q14.3) with retinoblastoma: confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion J Med Genet 24 1987 696 697
    • (1987) J Med Genet , vol.24 , pp. 696-697
    • Motegi, T.1    Ikeda, K.2    Watanabe, K.3
  • 39
    • 0019802336 scopus 로고
    • Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase
    • H. Rivera, C. Turleau, and J. de Grouchy Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D Hum Genet 59 1981 211 214
    • (1981) D Hum Genet , vol.59 , pp. 211-214
    • Rivera, H.1    Turleau, C.2    De Grouchy, J.3
  • 40
    • 0020528733 scopus 로고
    • Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion
    • C. Turleau, J. de Grouchy, and F. Chavin-Colin Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion Ann Génét 26 1983 158 160
    • (1983) Ann Génét , vol.26 , pp. 158-160
    • Turleau, C.1    De Grouchy, J.2    Chavin-Colin, F.3
  • 41
    • 0023991115 scopus 로고
    • Interstitial deletion 13q: Further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients
    • L. Tranebjaerg, K.B. Nielsen, and N. Tommerup Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients Am J Med Genet 29 1988 739 753
    • (1988) Am J Med Genet , vol.29 , pp. 739-753
    • Tranebjaerg, L.1    Nielsen, K.B.2    Tommerup, N.3
  • 42
    • 0019183061 scopus 로고
    • Retinoblastoma and interstitial deletion of 13q (author's transl)
    • J. De Grouchy, C. Turleau, and M.O. Cabanis Retinoblastoma and interstitial deletion of 13q (author's transl) Arch Fr Pédiatr 37 1980 531 535
    • (1980) Arch Fr Pédiatr , vol.37 , pp. 531-535
    • De Grouchy, J.1    Turleau, C.2    Cabanis, M.O.3
  • 43
    • 0018357569 scopus 로고
    • Partial triplication and deletion of 13q: Study of a family presenting with bilateral retinoblastomas
    • V.M. Riccardi, H.M. Hittner, and U. Francke Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas Clin Genet 15 1979 332 345
    • (1979) Clin Genet , vol.15 , pp. 332-345
    • Riccardi, V.M.1    Hittner, H.M.2    Francke, U.3
  • 44
    • 0032557728 scopus 로고    scopus 로고
    • Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13
    • B.J. Weigel, M.E. Pierpont, and T.L. Young Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13 Am J Med Genet 77 1998 285 288
    • (1998) Am J Med Genet , vol.77 , pp. 285-288
    • Weigel, B.J.1    Pierpont, M.E.2    Young, T.L.3
  • 45
    • 0022939119 scopus 로고
    • Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus
    • G.N. Wilson, M. Dasouki, and M. Barr Jr Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus Am J Med Genet Suppl 2 1986 65 72
    • (1986) Am J Med Genet Suppl , vol.2 , pp. 65-72
    • Wilson, G.N.1    Dasouki, M.2    Barr Jr., M.3
  • 46
    • 0024905706 scopus 로고
    • Aneuploidy with neural tube defects: Another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein
    • A. Drugan, M.P. Johnson, and E. Dvorin Aneuploidy with neural tube defects: another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein Fetal Ther 4 1989 88 92
    • (1989) Fetal Ther , vol.4 , pp. 88-92
    • Drugan, A.1    Johnson, M.P.2    Dvorin, E.3
  • 47
    • 0037810302 scopus 로고    scopus 로고
    • Molecular genetic delineation of a deletion of chromosome 13q12- > q13 in a patient with autism and auditory processing deficits
    • M. Smith, A. Woodroffe, and R. Smith Molecular genetic delineation of a deletion of chromosome 13q12- > q13 in a patient with autism and auditory processing deficits Cytogenet Genome Res 98 2002 233 239
    • (2002) Cytogenet Genome Res , vol.98 , pp. 233-239
    • Smith, M.1    Woodroffe, A.2    Smith, R.3
  • 48
    • 57549110416 scopus 로고    scopus 로고
    • Ethical authorship and publishing
    • A.J. Coats Ethical authorship and publishing Int J Cardiol 131 2009 149 150
    • (2009) Int J Cardiol , vol.131 , pp. 149-150
    • Coats, A.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.